Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr2:25467429
- GRCh38:
- Chr2:25244560
| DNMT3A | C326*, C360*, C397*, C549* | Global developmental delay, Specific learning disability, Large for gestational age,
Optic disc pallor, Macrocephaly, Obesity
| Pathogenic
(Dec 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100883875-100883876
- GRCh38:
- Chr8:99871647-99871648
| VPS13B | V3903fs, V3928fs | Myopia, Intellectual disability, Retinal dystrophy,
Mild hearing impairment, Joint laxity, Optic disc pallor,
Retinal dystrophy, Global developmental delay, High myopia
| Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr8:100533239
- GRCh38:
- Chr8:99521011
| VPS13B | | Cohen syndrome | Pathogenic
(Apr 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65978677
- GRCh38:
- Chr11:66211206
| PACS1 | R203W | Neurodevelopmental disorder, Inborn genetic diseases, not provided,
Global developmental delay, Schuurs-Hoeijmakers syndrome, Hypotelorism,
Aortic root aneurysm, Mitral valve prolapse, Horseshoe kidney,
Optic disc pallor, Intellectual disabilityPACS1-related condition,
PACS1-related syndrome, Multiple congenital anomalies, See cases,
...see more | Pathogenic/Likely pathogenic
(Nov 10, 2023) | criteria provided, multiple submitters, no conflicts |