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| Fetal anomalies v0.3617 | DEAF1 | Zornitza Stark Marked gene: DEAF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3617 | DEAF1 | Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3617 | DEAF1 | Zornitza Stark Phenotypes for gene: DEAF1 were changed from Autism, intellectual disability, basal ganglia dysfunction and epilepsy; MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171; Vulto-van Silfout-de Vries syndrome 615828 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3616 | DEAF1 | Zornitza Stark Publications for gene: DEAF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3615 | DEAF1 | Zornitza Stark Mode of inheritance for gene: DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3614 | DEAF1 | Zornitza Stark Classified gene: DEAF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3614 | DEAF1 | Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3613 | DEAF1 |
Zornitza Stark changed review comment from: Bi-allelic disease is through LOF mechanism (PTVs and missense). Mono-allelic disease described in association with de novo missense variants only. LOF and Dominant-negative - De novo missense in the SAND domain tend to have a dominant-negative effect - Biallelic variants in the SAND domain lead to partial loss of function - missense (reduced function), NMD (haploinsufficiency) - Heterozygous deletions have no phenotype.; to: Bi-allelic disease is through LOF mechanism (PTVs and missense). Mono-allelic disease described in association with de novo missense variants only. LOF and Dominant-negative - De novo missense in the SAND domain tend to have a dominant-negative effect - Biallelic variants in the SAND domain lead to partial loss of function - missense (reduced function), NMD (haploinsufficiency) - Heterozygous deletions have no phenotype. Brain abnormalities on imaging, particularly with AD disorder. |
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| Fetal anomalies v0.0 | DEAF1 |
Zornitza Stark gene: DEAF1 was added gene: DEAF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DEAF1 were set to Autism, intellectual disability, basal ganglia dysfunction and epilepsy; MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 |
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