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| Fetal anomalies v1.105 | GATAD2A |
Zornitza Stark gene: GATAD2A was added gene: GATAD2A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GATAD2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATAD2A were set to https://doi.org/10.1016/j.xhgg.2023.100198; 17565372 Phenotypes for gene: GATAD2A were set to Neurodevelopmental disorder, MONDO:0700092, GATAD2A-related Review for gene: GATAD2A was set to AMBER Added comment: Inconsistent pattern of congenital abnormalities. https://doi.org/10.1016/j.xhgg.2023.100198 - Five unrelated individuals with a neurodevelopmental disorder identified with 3 missense & 2 LoF (4 de novo & 1 unknown inheritance). The shared clinical features with variable expressivity include global developmental delay (4/4), craniofacial dysmorphism (3/5), structural brain defects (2/3), musculoskeletal anomalies (3/5), vision/hearing defects (2/3), gastrointestinal/renal defects (2/3). Loss of function is the expected mechanism of disease. In vitro assays of one of the missense variants (p.Cys420Tyr) demonstrates disruption of GATAD2A integration with CHD3, CHD4, and CHD5 PMID: 17565372 - null mouse model is embryonic lethal. Sources: Literature |
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| Fetal anomalies v0.1211 | CHD3 | Zornitza Stark Marked gene: CHD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1211 | CHD3 | Zornitza Stark Gene: chd3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1211 | CHD3 | Zornitza Stark Phenotypes for gene: CHD3 were changed from Apraxia of speech to Snijders Blok-Campeau syndrome, MIM#618205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1210 | CHD3 | Zornitza Stark Publications for gene: CHD3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1209 | CHD3 | Zornitza Stark Mode of inheritance for gene: CHD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1208 | CHD3 |
Zornitza Stark changed review comment from: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene. Sources: Expert list; to: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene. Macrocephaly in most individuals, otherwise no significant association with congenital anomalies. Sources: Expert list |
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| Fetal anomalies v0.1208 | CHD3 | Zornitza Stark edited their review of gene: CHD3: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CHD3 |
Zornitza Stark gene: CHD3 was added gene: CHD3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD3 were set to Apraxia of speech |
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