Activity
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7 actions
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| Intellectual disability v9.299 | ELFN1 | Arina Puzriakova Tag Q3_25_promote_green was removed from gene: ELFN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.299 | ELFN1 | Arina Puzriakova commented on gene: ELFN1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.298 | ELFN1 |
Arina Puzriakova Source NHS GMS was added to ELFN1. Source Expert Review Green was added to ELFN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v9.68 | ELFN1 | Arina Puzriakova Classified gene: ELFN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.68 | ELFN1 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.68 | ELFN1 | Arina Puzriakova Gene: elfn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.67 | ELFN1 |
Arina Puzriakova gene: ELFN1 was added gene: ELFN1 was added to Intellectual disability. Sources: Literature Q3_25_promote_green tags were added to gene: ELFN1. Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELFN1 were set to 40576023; 34509675; 34452636 Phenotypes for gene: ELFN1 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: ELFN1 was set to GREEN Added comment: Total of 14 individuals from 7 unrelated families with biallelic loss of function variants in ELFN1 and a neurodevelopmental disorder comprising DD/ID ranging from moderate to severe (13/13) and epilepsy (12/13). Other features included dysmorphic features, behavioural disturbances, ADHD, ASD, hypotonia, muscle weakness, ataxia. Knockout and haploinsufficiency studies in mice resulted in detectable phenotypes compatible with ELFN1 deficiency disorder. Sources: Literature |
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