| - GRCh37:
- ChrX:73744632-73744633
- GRCh38:
- ChrX:74524797-74524798
| SLC16A2 | Y339fs | Allan-Herndon-Dudley syndrome | Pathogenic
(Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73744316
- GRCh38:
- ChrX:74524481
| SLC16A2 | G233V | Allan-Herndon-Dudley syndrome | Uncertain significance
(Nov 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73749267
- GRCh38:
- ChrX:74529432
| SLC16A2 | P464T | Allan-Herndon-Dudley syndrome | Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73744349
- GRCh38:
- ChrX:74524514
| SLC16A2 | M244fs | Allan-Herndon-Dudley syndrome | Likely pathogenic
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73744258
- GRCh38:
- ChrX:74524423
| SLC16A2 | Q214* | Allan-Herndon-Dudley syndrome | Likely pathogenic
(Jul 12, 2022) | no assertion criteria provided |
| - GRCh37:
- ChrX:73744470-73744471
- GRCh38:
- ChrX:74524635-74524636
| SLC16A2 | S286fs | Allan-Herndon-Dudley syndrome | Likely pathogenic
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73744594
- GRCh38:
- ChrX:74524759
| SLC16A2 | F326L | Allan-Herndon-Dudley syndrome | Uncertain significance
(May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73749079
- GRCh38:
- ChrX:74529244
| SLC16A2 | | Allan-Herndon-Dudley syndrome | Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73751223-73751224
- GRCh38:
- ChrX:74531388-74531389
| SLC16A2 | I488fs | Allan-Herndon-Dudley syndrome | Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73641873
- GRCh38:
- ChrX:74422038
| SLC16A2 | N136fs | Allan-Herndon-Dudley syndrome | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73749265
- GRCh38:
- ChrX:74529430
| SLC16A2 | P463L | Allan-Herndon-Dudley syndrome | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73696796
- GRCh38:
- ChrX:74476961
| SLC16A2 | | Allan-Herndon-Dudley syndrome | Uncertain significance
(May 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73641568-73641569
- GRCh38:
- ChrX:74421733-74421734
| SLC16A2 | S33fs | Spastic paraplegia, Allan-Herndon-Dudley syndrome | Pathogenic/Likely pathogenic
(Dec 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:73740823
- GRCh38:
- ChrX:74520988
| SLC16A2 | | Allan-Herndon-Dudley syndrome | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:73744469-73744470
- GRCh38:
- ChrX:74524634-74524635
| SLC16A2 | Q288fs | Allan-Herndon-Dudley syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:73744225
- GRCh38:
- ChrX:74524390
| SLC16A2 | I203fs | Allan-Herndon-Dudley syndrome | Likely pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73749147
- GRCh38:
- ChrX:74529312
| SLC16A2 | D424N | not provided, Spastic paraplegia, Allan-Herndon-Dudley syndrome
| Likely pathogenic
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:73744458
- GRCh38:
- ChrX:74524623
| SLC16A2 | Y280* | Allan-Herndon-Dudley syndrome | Likely pathogenic
(Jul 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73641467-73641907
- GRCh38:
- ChrX:74421632-74422072
| SLC16A2 | | Allan-Herndon-Dudley syndrome | Pathogenic
(May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73160043-73703398
| FTX, JPX, SLC16A2, ZCCHC13 | | Allan-Herndon-Dudley syndrome | Pathogenic
(Apr 5, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrX:73744590
- GRCh38:
- ChrX:74524755
| SLC16A2 | W324* | Allan-Herndon-Dudley syndrome | Pathogenic
(Dec 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73745628
- GRCh38:
- ChrX:74525793
| SLC16A2 | W357* | Allan-Herndon-Dudley syndrome | Pathogenic
(Jul 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73641806
- GRCh38:
- ChrX:74421971
| SLC16A2 | G112R | not specified, Allan-Herndon-Dudley syndrome | Uncertain significance
(Apr 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:73740829
- GRCh38:
- ChrX:74520994
| SLC16A2 | W145* | Allan-Herndon-Dudley syndrome | Likely pathogenic
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73740905
- GRCh38:
- ChrX:74521070
| SLC16A2 | R171* | Allan-Herndon-Dudley syndrome, Spastic paraplegia | Pathogenic
(Mar 4, 2022) | criteria provided, multiple submitters, no conflicts |
| | SLC16A2 | | Allan-Herndon-Dudley syndrome | Pathogenic
(Jan 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73744285
- GRCh38:
- ChrX:74524450
| SLC16A2 | Y223D | Allan-Herndon-Dudley syndrome | Uncertain significance
(May 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73740842
- GRCh38:
- ChrX:74521007
| SLC16A2 | A150T | Allan-Herndon-Dudley syndrome | Uncertain significance
(Dec 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73749249
- GRCh38:
- ChrX:74529414
| SLC16A2 | P458fs | Allan-Herndon-Dudley syndrome | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73749139
- GRCh38:
- ChrX:74529304
| SLC16A2 | G421V | Allan-Herndon-Dudley syndrome | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73641872-73641873
- GRCh38:
- ChrX:74422037-74422038
| SLC16A2 | N136fs | Spastic paraplegia, Allan-Herndon-Dudley syndrome | Pathogenic/Likely pathogenic
(Feb 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:73740833
- GRCh38:
- ChrX:74520998
| SLC16A2 | G147R | Allan-Herndon-Dudley syndrome | Pathogenic
(Jan 1, 2014) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73641497
- GRCh38:
- ChrX:74421662
| SLC16A2 | E9K | Allan-Herndon-Dudley syndrome | Uncertain significance
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73641626
- GRCh38:
- ChrX:74421791
| SLC16A2 | Q52* | Allan-Herndon-Dudley syndrome, not provided | Pathogenic
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:73641358-73641359
- GRCh38:
- ChrX:74421523-74421524
| SLC16A2 | | Inborn genetic diseases, Allan-Herndon-Dudley syndrome, Spastic paraplegia,
not provided | Benign/Likely benign
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:73749267
- GRCh38:
- ChrX:74529432
| SLC16A2 | P464S | Allan-Herndon-Dudley syndrome | Likely pathogenic
(Aug 7, 2014) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73745729-73745732
- GRCh38:
- ChrX:74525894-74525897
| SLC16A2 | | Allan-Herndon-Dudley syndrome | Pathogenic
(Dec 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73740828
- GRCh38:
- ChrX:74520993
| SLC16A2 | W145* | not provided | Pathogenic
(Mar 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73740922
- GRCh38:
- ChrX:74521087
| SLC16A2 | A178fs | Allan-Herndon-Dudley syndrome | Pathogenic
(Feb 22, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73744645
- GRCh38:
- ChrX:74524810
| SLC16A2 | | Allan-Herndon-Dudley syndrome | Pathogenic
(Nov 7, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73641583-73641584
- GRCh38:
- ChrX:74421748-74421749
| SLC16A2 | | not provided, Spastic paraplegia, Allan-Herndon-Dudley syndrome
| Conflicting interpretations of pathogenicity
(Dec 31, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:73641846
- GRCh38:
- ChrX:74422011
| SLC16A2 | Y125fs | Allan-Herndon-Dudley syndrome | Pathogenic
(Aug 28, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73641726
- GRCh38:
- ChrX:74421891
| SLC16A2 | R86fs | Allan-Herndon-Dudley syndrome | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73751240-73751247
- GRCh38:
- ChrX:74531405-74531412
| SLC16A2 | V492fs | Allan-Herndon-Dudley syndrome | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73749263-73749264
- GRCh38:
- ChrX:74529428-74529429
| SLC16A2 | I465fs | Allan-Herndon-Dudley syndrome | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73744558
- GRCh38:
- ChrX:74524723
| SLC16A2 | R314* | Spastic paraplegia, not provided, Allan-Herndon-Dudley syndrome
| Pathogenic
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:73751236
- GRCh38:
- ChrX:74531401
| SLC16A2 | G490R | Inborn genetic diseases, Allan-Herndon-Dudley syndrome, not provided
| Conflicting interpretations of pathogenicity
(May 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:73744208
- GRCh38:
- ChrX:74524373
| SLC16A2 | R197H | not provided, Allan-Herndon-Dudley syndrome | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:73740843
- GRCh38:
- ChrX:74521008
| SLC16A2 | A150E | Allan-Herndon-Dudley syndrome | Likely pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73641749
- GRCh38:
- ChrX:74421914
| SLC16A2 | Q93* | Allan-Herndon-Dudley syndrome | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73641420
- GRCh38:
- ChrX:74421585
| SLC16A2 | | Allan-Herndon-Dudley syndrome | Uncertain significance
(Aug 7, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73749319
- GRCh38:
- ChrX:74529484
| SLC16A2 | | not provided, Allan-Herndon-Dudley syndrome | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:73745669
- GRCh38:
- ChrX:74525834
| SLC16A2 | R371C | Hereditary spastic paraplegia, Inborn genetic diseases, Spastic paraplegia,
not provided, Allan-Herndon-Dudley syndrome | Pathogenic/Likely pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:73744597
- GRCh38:
- ChrX:74524762
| SLC16A2 | G327R | not provided, Spastic paraplegia, Allan-Herndon-Dudley syndrome,
Decreased activity of the pyruvate dehydrogenase complex | Pathogenic/Likely pathogenic
(Feb 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:73744534
- GRCh38:
- ChrX:74524699
| SLC16A2 | Q306* | Allan-Herndon-Dudley syndrome | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:73749130
- GRCh38:
- ChrX:74529295
| SLC16A2 | L418P | not provided | Likely pathogenic
(Apr 16, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:73641831
- GRCh38:
- ChrX:74421996
| SLC16A2 | S120F | Allan-Herndon-Dudley syndrome | not provided | no assertion provided |
| - GRCh37:
- ChrX:73641569
- GRCh38:
- ChrX:74421734
| SLC16A2 | S33P | Inborn genetic diseases, Spastic paraplegia, not specified,
not provided, Hereditary spastic paraplegia, Allan-Herndon-Dudley syndrome
| Benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:73749152-73749154
- GRCh38:
- ChrX:74529317-74529319
| SLC16A2 | F427del | Allan-Herndon-Dudley syndrome | not provided | no assertion provided |
| - GRCh37:
- ChrX:73744491
- GRCh38:
- ChrX:74524656
| SLC16A2 | | Inborn genetic diseases, Spastic paraplegia, not specified,
not provided, Hereditary spastic paraplegia | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:73751380
- GRCh38:
- ChrX:74531545
| SLC16A2 | P538fs | Allan-Herndon-Dudley syndrome | Pathogenic
(May 1, 2006) | no assertion criteria provided |
| - GRCh37:
- ChrX:73740855-73740857
- GRCh38:
- ChrX:74521020-74521022
| SLC16A2 | F156del | not provided, Allan-Herndon-Dudley syndrome | Pathogenic/Likely pathogenic
(Nov 1, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:73745679
- GRCh38:
- ChrX:74525844
| SLC16A2 | S374* | Allan-Herndon-Dudley syndrome | Pathogenic
(May 1, 2008) | no assertion criteria provided |
| - GRCh37:
- ChrX:73745637
- GRCh38:
- ChrX:74525802
| SLC16A2 | L360W | Allan-Herndon-Dudley syndrome | Pathogenic
(May 1, 2008) | no assertion criteria provided |
| - GRCh37:
- ChrX:73751249
- GRCh38:
- ChrX:74531414
| SLC16A2 | L494P | Allan-Herndon-Dudley syndrome | Pathogenic
(May 1, 2008) | no assertion criteria provided |
| | SLC16A2 | | Allan-Herndon-Dudley syndrome | Pathogenic
(Jun 15, 2017) | no assertion criteria provided |
| - GRCh37:
- ChrX:73749067
- GRCh38:
- ChrX:74529232
| SLC16A2 | L397P | Intellectual disability | Pathogenic
(Jul 25, 2014) | criteria provided, single submitter |
| - GRCh38:
- ChrX:74305035-74520989
| SLC16A2 | | Allan-Herndon-Dudley syndrome | Pathogenic
(Jun 15, 2017) | no assertion criteria provided |
| - GRCh37:
- ChrX:73740843
- GRCh38:
- ChrX:74521008
| SLC16A2 | A150V | not provided, Allan-Herndon-Dudley syndrome | Pathogenic
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:73744611
- GRCh38:
- ChrX:74524776
| SLC16A2 | A332fs | Allan-Herndon-Dudley syndrome | Pathogenic
(Jan 1, 2004) | no assertion criteria provided |
| - GRCh37:
- ChrX:73749190
- GRCh38:
- ChrX:74529355
| SLC16A2 | L438P | Allan-Herndon-Dudley syndrome | Pathogenic
(Jan 1, 2004) | no assertion criteria provided |