Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr16:4264335-4387622
- GRCh38:
- Chr16:4214334-4337621
| GLIS2, GLIS2-AS1, LINC01569, LOC125146387, LOC125146388, LOC130058361, LOC130058362, LOC130058363, LOC130058364, LOC130058365, SRL, TFAP4 | | Low-set ears, Prominent nasal bridge, Underdeveloped nasal alae,
Intellectual disability, mild, Secondary microcephaly, Atypical behavior
| Uncertain significance
(May 1, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr6:31635666
- GRCh38:
- Chr6:31667889
| CSNK2B | D32N | CSNK2B-related condition, CSNK2B-related intellectual disability with or without epilepsy, Inborn genetic diseases,
Poirier-Bienvenu neurodevelopmental syndrome, not provided | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:121768479
- GRCh38:
- Chr6:121447333
| GJA1 | K162N | Atrioventricular septal defect and common atrioventricular junction, Underdeveloped nasal alae, Edema of the dorsum of feet,
Cleft upper lip, Finger syndactyly, Sparse hair,
4-5 finger syndactyly, Narrow nasal bridge | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| | | | Large for gestational age, Macrocephaly, Psychotic episodes,
Underdeveloped nasal alae, Hypernasal speech, Abnormal pinna morphology,
Sparse hair, Abnormal circulating serine concentration, Hypotonia,
Moderate global developmental delay | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |