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| Holoprosencephaly and septo-optic dysplasia v1.6 | ARID1A | Zornitza Stark Marked gene: ARID1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.6 | ARID1A | Zornitza Stark Gene: arid1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.6 | ARID1A | Zornitza Stark Classified gene: ARID1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.6 | ARID1A | Zornitza Stark Gene: arid1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.5 | ARID1A | Zornitza Stark reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 2 #614607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.4 | ARID1A |
Di Milnes gene: ARID1A was added gene: ARID1A was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1A were set to 35885948 Phenotypes for gene: ARID1A were set to Coffin-Siris syndrome 2 #614607 Review for gene: ARID1A was set to AMBER Added comment: single case SOD (absent septum pellucidum, absent corpus callosum, ventriculomegaly, aqueductal stenosis ONH), a ventricular septal defect and a patent foramen ovale, 13 pairs of ribs, bilateral clinodactyly, single palmar crease, broad large toe with hypoplastic nail, cleft palate, choanal atresia, seizures, apnoea, and dysmorphic facial features, including down-slanting palpebral fissures, long columella, low-set and posteriorly rotated ears, depressed nasal bridge, scant hair due to premature birth; he died at 6 weeks of age. Mosaic truncating variant confirmed de novo Sanger sequencing (33% exome reads, lower peak on Sanger) Sources: Literature |
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