Activity
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| Intellectual disability v8.97 | FRA10AC1 | Sarah Leigh Tag Q3_24_promote_green was removed from gene: FRA10AC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | FRA10AC1 | Sarah Leigh reviewed gene: FRA10AC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | FRA10AC1 |
Sarah Leigh Source NHS GMS was added to FRA10AC1. Source Expert Review Green was added to FRA10AC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v6.58 | FRA10AC1 | Achchuthan Shanmugasundram Classified gene: FRA10AC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.58 | FRA10AC1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families reported with biallelic FRA10AC1 variants and intellectual disability and/ or global developmental delay. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.58 | FRA10AC1 | Achchuthan Shanmugasundram Gene: fra10ac1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.57 | FRA10AC1 |
Achchuthan Shanmugasundram gene: FRA10AC1 was added gene: FRA10AC1 was added to Intellectual disability. Sources: Literature Q3_24_promote_green tags were added to gene: FRA10AC1. Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRA10AC1 were set to 34694367; 35871492; 35821753 Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113 Review for gene: FRA10AC1 was set to GREEN Added comment: PMID:34694367 reported the identification of homozygous FRA10AC1 variants in five individuals from three unrelated consanguineous Arabic families with a neurodevelopmental disorder. The two unrelated patients from two different families with loss-of-function variants (g.4656_7575del and c.561_562insTTTA/ p.Ser188Phefs*6) presented with developmental delay, profound intellectual disability (ID), and no speech, while three siblings from the third family with the c.494_496delAAG (p.Glu165del) variant had borderline to mild ID. There is some functional evidence available for the p.Glu165del variant, which shows that this variant impacts intrinsic stability of FRA10AC1 but does not affect its nuclear localisation. PMID:35871492 reported the identification of a homozygous nonsense variant (c.328C>T/ p.Arg110Ter) in two sisters from a consanguineous family. They presented with global developmental delay, growth impairment, congenital malformations and facial dysmorphism. Another patient identified from the DECIPHER database was also reported with a ~13kb homozygous deletion encompassing exons 1-3 and with global developmental delay. PMID:35821753 reported the identification of a homozygous LOF nonsense variant (c.481C>T/ p.Arg161Ter) in two siblings from a highly consanguineous Arab family. They presented with dysmorphic features, failure to thrive, global developmental delay, generalized hypotonia, feeding problems, and congenital heart disease. This gene has been associated with relevant phenotypes in OMIM (MIM #620113) and Gene2Phenotype ('strong' rating on the DD panel). Sources: Literature |
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