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| Intellectual disability v4.53 | CELF2 |
Arina Puzriakova Tag Q2_22_rating was removed from gene: CELF2. Tag Q2_22_NHS_review was removed from gene: CELF2. |
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| Intellectual disability v4.53 | CELF2 | Arina Puzriakova edited their review of gene: CELF2: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.52 | CELF2 |
Arina Puzriakova Source NHS GMS was added to CELF2. Source Expert Review Green was added to CELF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v3.1571 | CELF2 | Arina Puzriakova Classified gene: CELF2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1571 | CELF2 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 11 unrelated individuals harbouring heterozygous variants (10 de novo) in this gene. DD/ID observed in all cases, and although in some this was subsequent to onset of seizures, at least 2 individuals showed no epilepsy and therefore inclusion of CELF2 on this panel would be of value. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1571 | CELF2 | Arina Puzriakova Gene: celf2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1570 | CELF2 |
Arina Puzriakova Tag Q2_22_rating tag was added to gene: CELF2. Tag Q2_22_NHS_review tag was added to gene: CELF2. |
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| Intellectual disability v3.1570 | CELF2 | Arina Puzriakova Publications for gene: CELF2 were set to 34107259; 33131106 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1569 | CELF2 | Arina Puzriakova Phenotypes for gene: CELF2 were changed from Developmental delay; epileptic encephalopathy to Developmental and epileptic encephalopathy 97, OMIM:619561 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1568 | CELF2 |
Julia Baptista gene: CELF2 was added gene: CELF2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CELF2 were set to 34107259; 33131106 Phenotypes for gene: CELF2 were set to Developmental delay; epileptic encephalopathy Mode of pathogenicity for gene: CELF2 was set to Other Review for gene: CELF2 was set to GREEN Added comment: De novo missense variants in six individuals (PMID:34107259). The variants cluster on the C‐terminus, a nuclear localization sign. Phenotypic findings include global developmental delay with moderate to severe impairment of speech and language capacities, infantile spasms, stereotypic movements and/or aggressive behaviors, and one individual was diagnosed with ASD. A previous publication (PMID: 33131106) reported five unrelated individuals (four de novo). Two missense variants, one frameshift predicted to escape NMD and one splice site variant, c.272‐1G>C were identified; these variants, except the splicing, clustered on the C‐terminus. Sources: Literature |
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