| - GRCh37:
- Chr12:106851035
- GRCh38:
- Chr12:106457257
| POLR3B | R747*, R805* | Pol III-related leukodystrophy, not provided, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
| Pathogenic/Likely pathogenic
(Mar 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:106848474
- GRCh38:
- Chr12:106454696
| POLR3B | A702T, A760T | not provided, Pol III-related leukodystrophy, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
| Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:79769273
- Chr10:79743781
- GRCh38:
- Chr10:78009515
- Chr10:77984023
| POLR3A, POLR3A | | Neonatal pseudo-hydrocephalic progeroid syndrome | Pathogenic
(Feb 13, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr10:79782028
- GRCh38:
- Chr10:78022270
| POLR3A | R254* | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, Neonatal pseudo-hydrocephalic progeroid syndrome, not provided,
Pol III-related leukodystrophy | Pathogenic/Likely pathogenic
(Aug 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:79769440
- GRCh38:
- Chr10:78009682
| POLR3A | | POLR3A-related condition, POLR3A-related disorders, Pol III-related leukodystrophy,
Neonatal pseudo-hydrocephalic progeroid syndrome, not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
| Conflicting interpretations of pathogenicity
(Apr 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:79769273
- GRCh38:
- Chr10:78009515
| POLR3A | | POLR3A-related condition, POLR3A-related neurological disorders, POLR3A-related disorders,
Pol III-related leukodystrophy, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, Inborn genetic diseases,
Neonatal pseudo-hydrocephalic progeroid syndrome, not specified, not provided
| Conflicting interpretations of pathogenicity
(Oct 24, 2023) | criteria provided, conflicting interpretations |
| | | | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | Likely pathogenic
(Feb 26, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr12:106751485
- GRCh38:
- Chr12:106357707
| POLR3B | | Pol III-related leukodystrophy, not provided | Conflicting interpretations of pathogenicity
(Oct 9, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:106751472
- GRCh38:
- Chr12:106357694
| POLR3B | | Pol III-related leukodystrophy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79793652
- GRCh38:
- Chr10:78033894
| LOC130004144, POLR3A, RPS24 | | not specified, Diamond-Blackfan anemia 3, Congenital hypoplastic anemia,
Pol III-related leukodystrophy, not provided | Benign/Likely benign
(Mar 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:79793551
- GRCh38:
- Chr10:78033793
| LOC130004144, POLR3A, RPS24 | | Pol III-related leukodystrophy, Congenital hypoplastic anemia, Diamond-Blackfan anemia 3
| Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79789268
- GRCh38:
- Chr10:78029510
| LOC130004143, POLR3A, RPS24 | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, Congenital hypoplastic anemia, Pol III-related leukodystrophy
| Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:79785367
- GRCh38:
- Chr10:78025609
| LOC126860971, POLR3A | | Pol III-related leukodystrophy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79769438
- GRCh38:
- Chr10:78009680
| POLR3A | | Pol III-related leukodystrophy, not provided | Conflicting interpretations of pathogenicity
(Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:79741974
- GRCh38:
- Chr10:77982216
| POLR3A | | Pol III-related leukodystrophy, not provided | Conflicting interpretations of pathogenicity
(Jul 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:79736964
- GRCh38:
- Chr10:77977206
| POLR3A | | Pol III-related leukodystrophy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735894
- GRCh38:
- Chr10:77976136
| POLR3A | | Pol III-related leukodystrophy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735596
- GRCh38:
- Chr10:77975838
| POLR3A | | Pol III-related leukodystrophy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735456-79735465
- GRCh38:
- Chr10:77975698-77975707
| POLR3A | | Pol III-related leukodystrophy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:106826199
- GRCh38:
- Chr12:106432421
| POLR3B | V523E, V465E | POLR3B-related condition, Charcot-Marie-Tooth disease, demyelinating, IIA 1I, Pol III-related leukodystrophy,
POLR3-related leukodystrophy, Hypogonadotropic hypogonadism 7 with or without anosmia, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome,
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, not specified, not provided,
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, See cases ...see more | Pathogenic/Likely pathogenic
(Sep 20, 2023) | criteria provided, multiple submitters, no conflicts |