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| Mendeliome v1.4511 | FRMD4A | Sangavi Sivagnanasundram reviewed gene: FRMD4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34869127; Phenotypes: severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, MONDO:0014787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1893 | FRMD4A | Zornitza Stark Marked gene: FRMD4A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1893 | FRMD4A | Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1893 | FRMD4A | Zornitza Stark Classified gene: FRMD4A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1893 | FRMD4A | Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1892 | FRMD4A |
Zornitza Stark gene: FRMD4A was added gene: FRMD4A was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRMD4A were set to 25388005; 30214071 Phenotypes for gene: FRMD4A were set to Intellectual disability; microcephaly; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819 Review for gene: FRMD4A was set to AMBER Added comment: Single Bedouin Israeli family reported with homozygous variant initially. Good segregation data. No functional data. Another family reported as part of a large consanguineous microcephaly cohort, different variant. Sources: Expert Review |
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