| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4040 | EGFLAM | Bryony Thompson Marked gene: EGFLAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4040 | EGFLAM | Bryony Thompson Gene: egflam has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4040 | EGFLAM | Bryony Thompson Classified gene: EGFLAM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4040 | EGFLAM | Bryony Thompson Gene: egflam has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4039 | EGFLAM |
Bryony Thompson gene: EGFLAM was added gene: EGFLAM was added to Mendeliome. Sources: Literature Mode of inheritance for gene: EGFLAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EGFLAM were set to 41343198; 18641643 Phenotypes for gene: EGFLAM were set to Congenital stationary night blindness MONDO:0016293, EGFLAM-related Review for gene: EGFLAM was set to AMBER Added comment: PMID 41343198 reports two individuals from two unrelated Moroccan families with autosomal recessive loss-of-function truncating EGFLAM variants presenting with complete congenital stationary night blindness (cCSNB), characterised by childhood-onset night blindness, high myopia, reduced visual acuity, and an electronegative Schubert-Bornschein ERG pattern. The homozygous frameshift (p.Val522Glufs*18) and nonsense (p.Arg599*) variants cosegregated with disease. PMID 18641643 Pikachurin null-mutant mice showed improper apposition of the bipolar cell dendritic tips to the photoreceptor ribbon synapses, resulting in alterations in synaptic signal transmission and visual function. Sources: Literature |
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