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| Genetic Epilepsy v0.1081 | AFF3 | Zornitza Stark Phenotypes for gene: AFF3 were changed from Intellectual disability; seizures; hypertrichosis to KINSSHIP syndrome, MIM# 619297; Intellectual disability; seizures; hypertrichosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1080 | AFF3 | Zornitza Stark Publications for gene: AFF3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1079 | AFF3 |
Zornitza Stark edited their review of gene: AFF3: Added comment: 16 affected individuals reported with de novo missense variants. All variants occurred within the degron motif of the ALF domain. The highly conserved 9-amino acid motif mediates the interaction with SIAH E3 ubiquitin ligases and regulates their degradation. Thirteen of the probands carried variants affecting the same codon in exon 6, ala258. All probands presented with severe developmental epileptic encephalopathy along with mesomelic dysplasia (12/18) and failure to thrive (14/18). The skeletal features included short forearms, radial head dislocation/subluxation, triangular and/or short tibia, fibular hypoplasia, hip dislocation, and tarsal and/or metatarsal synostosis resembling Nievergelt/Savarirayan mesomelic skeletal dysplasia. Other features included microcephaly (9/18), global brain atrophy and/or ventriculomegaly (13/15), fibular hypoplasia (12/16), horseshoe or hypoplastic kidney (13/17), abnormalities of muscle tone (12/16), gastroesophageal reflux disease (6/16), and other gastrointestinal symptoms (14/17). The patients also shared common dysmorphic facial features such as a bulbous nasal tip (10/15), a wide mouth (10/16) often with a square upper lip, abnormalities of the teeth and gums (12/15), and hypertrichosis (12/15). The constellation of features recalled some features of CHOPS syndrome, which is caused by mutations in a related gene, AFF4.; Changed publications: 31388108, 33961779; Changed phenotypes: KINSSHIP syndrome, MIM# 619297, Intellectual disability, seizures, hypertrichosis |
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| Genetic Epilepsy v0.156 | AFF3 | Zornitza Stark Marked gene: AFF3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.156 | AFF3 | Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.156 | AFF3 | Zornitza Stark Classified gene: AFF3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.156 | AFF3 | Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.155 | AFF3 |
Zornitza Stark gene: AFF3 was added gene: AFF3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AFF3 were set to Intellectual disability; seizures; hypertrichosis Review for gene: AFF3 was set to GREEN Added comment: Voisin et al, 2019 (preprint) - New AD disorder associated with de novo missense variants in AFF3. 10 unrelated affected individuals with de novo missense variants. 10/11 had epilepsy. Functional data including animal model. Sources: Expert list |
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