| - GRCh37:
- ChrX:76856033
- GRCh38:
- ChrX:77600564
| ATRX | G1818D, G1856D | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Sep 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76940077
- GRCh38:
- ChrX:77684585
| ATRX | A186V, A224V | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Likely pathogenic
(Jun 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76938388
- GRCh38:
- ChrX:77682896
| ATRX | G749A, G787A | Acquired hemoglobin H disease, Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1
| Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76939990
- GRCh38:
- ChrX:77684498
| ATRX | L215S, L253S | Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome | Likely pathogenic
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76849273
- GRCh38:
- ChrX:77593803
| ATRX | W1963C, W2001C | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76937552
- GRCh38:
- ChrX:77682060
| ATRX | K1066E, K1028E | Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome | Uncertain significance
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76845394
- GRCh38:
- ChrX:77589924
| ATRX | S2005P, S2043P | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Likely pathogenic
(Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76763941-76763942
- GRCh38:
- ChrX:77508463-77508464
| ATRX | M2418fs, M2456fs | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Pathogenic
(Nov 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76938647
- GRCh38:
- ChrX:77683155
| ATRX | R663C, R701C | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(May 2, 2022) | no assertion criteria provided |
| - GRCh37:
- ChrX:76953030-76959001
- GRCh38:
- ChrX:77697542-77703513
| ATRX | | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Pathogenic
(Oct 9, 2022) | no assertion criteria provided |
| - GRCh37:
- ChrX:53561530
- GRCh38:
- ChrX:53534569
| HUWE1 | D188N, D4260N | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Feb 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76874420
- GRCh38:
- ChrX:77618952
| ATRX | N1730Y, N1768Y | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76939282
- GRCh38:
- ChrX:77683790
| ATRX | T451I, T489I | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76918888
- GRCh38:
- ChrX:77663399
| ATRX | G1330V, G1368V | Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Sep 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76776886
- GRCh38:
- ChrX:77521408
| ATRX | A2318T, A2356T | Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76938940
- GRCh38:
- ChrX:77683448
| ATRX | A565V, A603V | Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Jul 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76874441
- GRCh38:
- ChrX:77618973
| ATRX | M1723V, M1761V | not provided, Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Likely pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76937326
- GRCh38:
- ChrX:77681834
| ATRX | S1103N, S1141N | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Nov 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76937296
- GRCh38:
- ChrX:77681804
| ATRX | S1113T, S1151T | Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome | Uncertain significance
(Mar 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76875998
- GRCh38:
- ChrX:77620530
| ATRX | P1675S, P1713S | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- ChrX:76812968
- GRCh38:
- ChrX:77557497
| ATRX | P2180L, P2218L | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Aug 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76939939
- GRCh38:
- ChrX:77684447
| ATRX | P232L, P270L | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:76872186
- GRCh38:
- ChrX:77616718
| ATRX | T1783A, T1821A | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76939426
- GRCh38:
- ChrX:77683934
| ATRX | T403R, T441R | not provided, Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76855033
- GRCh38:
- ChrX:77599564
| ATRX | K1897E, K1935E | Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76937430
- GRCh38:
- ChrX:77681938
| ATRX | D1068E, D1106E | Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76938403
- GRCh38:
- ChrX:77682911
| ATRX | K744I, K782I | Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome | Uncertain significance
(May 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76937361
- GRCh38:
- ChrX:77681869
| ATRX | | Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome | Conflicting interpretations of pathogenicity
(Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:76939268
- GRCh38:
- ChrX:77683776
| ATRX | K456E, K494E | not provided, Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome
| Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76940033
- GRCh38:
- ChrX:77684541
| ATRX | F201L, F239L | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Nov 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76872205
- GRCh38:
- ChrX:77616737
| ATRX | | Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome | Likely pathogenic
(Oct 13, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76938419
- GRCh38:
- ChrX:77682927
| ATRX | G739R, G777R | Inborn genetic diseases, Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome
| Conflicting interpretations of pathogenicity
(Jul 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:76937961
- GRCh38:
- ChrX:77682469
| ATRX | E891D, E929D | Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:76938832
- GRCh38:
- ChrX:77683340
| ATRX | L601W, L639W | Alpha thalassemia-X-linked intellectual disability syndrome | Likely benign
(Oct 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76814126-76814135
- GRCh38:
- ChrX:77558655-77558664
| ATRX | | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Aug 25, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:76939909
- GRCh38:
- ChrX:77684417
| ATRX | C242Y, C280Y | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Likely pathogenic
(Nov 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76845364
- GRCh38:
- ChrX:77589894
| ATRX | F2015V, F2053V | not provided, Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Mar 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76939952
- GRCh38:
- ChrX:77684460
| ATRX | Y228H, Y266H | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Dec 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76888749
- GRCh38:
- ChrX:77633261
| ATRX | N1656D, N1694D | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Likely pathogenic
(Jan 1, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:76937463
- GRCh38:
- ChrX:77681971
| ATRX | K1057N, K1095N | Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome
| Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:76938774
- GRCh38:
- ChrX:77683282
| ATRX | | Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome | Conflicting interpretations of pathogenicity
(May 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:76949320
- GRCh38:
- ChrX:77693831
| ATRX | K159fs | Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Pathogenic
(Dec 31, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76891451
- GRCh38:
- ChrX:77635960
| ATRX | V1514F, V1552F | Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Sep 6, 2012) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76907824-76907826
- GRCh38:
- ChrX:77652334-77652336
| ATRX | E1448del, E1410del | Acquired hemoglobin H disease, Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1,
Alpha thalassemia-X-linked intellectual disability syndrome | Uncertain significance
(Sep 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76938360
- GRCh38:
- ChrX:77682868
| ATRX | K758N, K796N | Acquired hemoglobin H disease, Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1,
Alpha thalassemia-X-linked intellectual disability syndrome | Uncertain significance
(Oct 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76874345
- GRCh38:
- ChrX:77618877
| ATRX | T1793P, T1755P | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Jun 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76829787
- GRCh38:
- ChrX:77574322
| ATRX | R2085L, R2047L | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Likely pathogenic
(Jun 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76937213
- GRCh38:
- ChrX:77681721
| ATRX | V1179I, V1141I | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(May 29, 2018) | no assertion criteria provided |
| - GRCh37:
- ChrX:76918987
- GRCh38:
- ChrX:77663498
| ATRX | R1335I, R1297I | Acquired hemoglobin H disease, Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1,
Alpha thalassemia-X-linked intellectual disability syndrome | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:76937399
- GRCh38:
- ChrX:77681907
| ATRX | M1117V, M1079V | Alpha thalassemia-X-linked intellectual disability syndrome, Acquired hemoglobin H disease, Alpha thalassemia-X-linked intellectual disability syndrome,
Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76763876
- GRCh38:
- ChrX:77508398
| ATRX | P2478A, P2440A | Acquired hemoglobin H disease, Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome,
Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:76920164
- GRCh38:
- ChrX:77664675
| ATRX | K1305Q, K1267Q | Intellectual disability-hypotonic facies syndrome, X-linked, 1, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
| Conflicting interpretations of pathogenicity
(Sep 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:76777829
- GRCh38:
- ChrX:77522351
| ATRX | N2296S, N2258S | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Acquired hemoglobin H disease,
Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome | Conflicting interpretations of pathogenicity
(Aug 19, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:76764111
- GRCh38:
- ChrX:77508633
| ATRX | | Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome, not provided,
Alpha thalassemia-X-linked intellectual disability syndrome | Conflicting interpretations of pathogenicity
(Sep 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:76937537
- GRCh38:
- ChrX:77682045
| ATRX | G1071R, G1033R | Alpha thalassemia-X-linked intellectual disability syndrome, Acquired hemoglobin H disease, Alpha thalassemia-X-linked intellectual disability syndrome,
Intellectual disability-hypotonic facies syndrome, X-linked, 1, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:76938682
- GRCh38:
- ChrX:77683190
| ATRX | Q689R, Q651R | Alpha thalassemia-X-linked intellectual disability syndrome, not provided, Intellectual disability-hypotonic facies syndrome, X-linked, 1,
Inborn genetic diseases, Acquired hemoglobin H disease, Alpha thalassemia-X-linked intellectual disability syndrome,
Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:76940012
| | | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | not provided | no assertion provided |
| - GRCh37:
- ChrX:76939529
- GRCh38:
- ChrX:77684037
| ATRX | L407V, L369V | Intellectual disability-hypotonic facies syndrome, X-linked, 1, not specified | Uncertain significance
(Apr 14, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76918921
- GRCh38:
- ChrX:77663432
| ATRX | K1357R, K1319R | not provided, Alpha thalassemia-X-linked intellectual disability syndrome, Acquired hemoglobin H disease,
Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76938598
- GRCh38:
- ChrX:77683106
| ATRX | P717L, P679L | not provided, Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome
| Conflicting interpretations of pathogenicity
(Feb 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:76829787
- GRCh38:
- ChrX:77574322
| ATRX | R2085H, R2047H | Intellectual disability-hypotonic facies syndrome, X-linked, 1, not provided, Alpha thalassemia-X-linked intellectual disability syndrome
| Pathogenic/Likely pathogenic
(Feb 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76813089
- GRCh38:
- ChrX:77557618
| ATRX | R2178W, R2140W | not provided, Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Pathogenic
(Feb 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76912134
- GRCh38:
- ChrX:77656644
| ATRX | E1377G, E1339G | Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1, not provided,
Inborn genetic diseases, Acquired hemoglobin H disease, Alpha thalassemia-X-linked intellectual disability syndrome,
Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome | Conflicting interpretations of pathogenicity
(Oct 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:11488725
- GRCh38:
- Chr19:11378049
| EPOR | P488S | not provided, Intellectual disability-hypotonic facies syndrome, X-linked, 1, Primary familial polycythemia due to EPO receptor mutation
| Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76939325
- GRCh38:
- ChrX:77683833
| ATRX | H475Y, H437Y | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Uncertain significance
(Jan 13, 2015) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76937966
- GRCh38:
- ChrX:77682474
| ATRX | E928Q, E890Q | Inborn genetic diseases, Acquired hemoglobin H disease, Alpha thalassemia-X-linked intellectual disability syndrome,
Intellectual disability-hypotonic facies syndrome, X-linked, 1, not provided, Alpha thalassemia-X-linked intellectual disability syndrome
| Conflicting interpretations of pathogenicity
(Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:76938579
- GRCh38:
- ChrX:77683087
| ATRX | E723D, E685D | Inborn genetic diseases, not specified, Acquired hemoglobin H disease,
Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1, not provided,
Alpha thalassemia-X-linked intellectual disability syndrome | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76953085
- GRCh38:
- ChrX:77697597
| ATRX | | Inborn genetic diseases, Acquired hemoglobin H disease, Alpha thalassemia-X-linked intellectual disability syndrome,
Intellectual disability-hypotonic facies syndrome, X-linked, 1, not specified, not provided,
Alpha thalassemia-X-linked intellectual disability syndrome | Benign/Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76944335
- GRCh38:
- ChrX:77688842
| ATRX | | Inborn genetic diseases, not specified, Acquired hemoglobin H disease,
Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1, not provided,
Alpha thalassemia-X-linked intellectual disability syndrome | Benign/Likely benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76944369
- GRCh38:
- ChrX:77688876
| ATRX | N179S, N141S | not provided, Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome
| Pathogenic/Likely pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76891446
- GRCh38:
- ChrX:77635955
| ATRX | | Acquired hemoglobin H disease, Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1,
not specified, not provided, Inborn genetic diseases,
Alpha thalassemia-X-linked intellectual disability syndrome | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76937963
- GRCh38:
- ChrX:77682471
| ATRX | | Intellectual disability-hypotonic facies syndrome, X-linked, 1, Inborn genetic diseases, not specified,
not provided, Alpha thalassemia-X-linked intellectual disability syndrome | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76972632
- GRCh38:
- ChrX:77717155
| ATRX | R37* | Inborn genetic diseases, Intellectual disability-hypotonic facies syndrome, X-linked, 1, not provided,
Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability | Pathogenic/Likely pathogenic
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76889148
- GRCh38:
- ChrX:77633660
| ATRX | T1621M, T1583M | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Likely pathogenic
(Jan 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76940012
- GRCh38:
- ChrX:77684520
| ATRX | R246C, R208C | Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1,
Acquired hemoglobin H disease, Intellectual disability-hypotonic facies syndrome, X-linked, 1, not provided,
Alpha thalassemia-X-linked intellectual disability syndrome | Pathogenic/Likely pathogenic
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76944337
- GRCh38:
- ChrX:77688844
| ATRX | P152A, P190A | Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1 | Likely pathogenic
(May 21, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:76814252
- GRCh38:
- ChrX:77558781
| ATRX | R2093Q, R2131Q | Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1, not provided
| Pathogenic
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:76776310
- GRCh38:
- ChrX:77520832
| ATRX | R2348*, R2386* | Microcephaly, Cryptorchidism, Intellectual disability, severe,
Ambiguous genitalia, Bone osteosarcoma, not provided,
Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome, See cases
| Pathogenic
(Dec 21, 2022) | criteria provided, multiple submitters, no conflicts |