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| Prepair 1000+ v1.126 | ADAT3 | Lilian Downie Marked gene: ADAT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.126 | ADAT3 | Lilian Downie Gene: adat3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.126 | ADAT3 | Lilian Downie Phenotypes for gene: ADAT3 were changed from Mental retardation, autosomal recessive 36, 615286 (3) to Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM#615286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.125 | ADAT3 | Lilian Downie Publications for gene: ADAT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.76 | ADAT3 |
Cassandra Muller changed review comment from: 20+ unrelated Arab families reported in the literature with the same homozygous missense variant in this gene causing intellectual disability (p.(Val128Met)) Other features can include microcephaly, growth failure, epilepsy.; to: 20+ unrelated Arab families reported in the literature with the same homozygous missense variant in this gene causing intellectual disability (p.(Val128Met)). One known family with a different variant in the same gene. Other features can include microcephaly, growth failure, epilepsy. |
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| Prepair 1000+ v1.76 | ADAT3 | Cassandra Muller reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23620220, 26842963, 29796286, 30296593, 35118659; Phenotypes: Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM#615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | ADAT3 |
Zornitza Stark gene: ADAT3 was added gene: ADAT3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAT3 were set to Mental retardation, autosomal recessive 36, 615286 (3) |
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