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Early onset or syndromic epilepsy v9.85 CLCN3 Achchuthan Shanmugasundram Phenotypes for gene: CLCN3 were changed from Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 to ?Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517; Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512
Early onset or syndromic epilepsy v9.84 CLCN3 Ida Ertmanska changed review comment from: Comment on mode of inheritance: There is currently only 1 recessive pedigree reported in literature where 2 sibs with a neurodevelopmental disorder with seizures and brain abnormalities harboured a homozygous frameshift CLCN3 variant. More than 20 individuals have been reported with an NDD and harbouring heterozygous missense variants in CLCN3. Hence, the mode of inheritance should be changed to MONOALLELIC only, until more evidence emerges for the BIALLELIC association. An expert_review tag was added to ensure GMS is in agreement on this demotion.; to: Comment on mode of inheritance: There is currently only 1 recessive pedigree reported in literature where 2 sibs with a neurodevelopmental disorder with seizures and brain abnormalities harboured a homozygous frameshift CLCN3 variant. More than 20 individuals have been reported with an NDD and harbouring heterozygous missense variants in CLCN3. Hence, the mode of inheritance should be changed to MONOALLELIC only, until more evidence emerges for the BIALLELIC association.
Early onset or syndromic epilepsy v9.84 CLCN3 Ida Ertmanska Tag Q3_26_expert_review was removed from gene: CLCN3.
Early onset or syndromic epilepsy v9.80 CLCN3 Ida Ertmanska changed review comment from: Comment on mode of inheritance: There is currently only 1 recessive pedigree reported in literature where 2 sibs with a neurodevelopmental disorder with seizures and brain abnormalities harboured a homozygous frameshift CLCN3 variant. More than 20 individuals have been reported with an NDD and harbouring heterozygous missense variants in CLCN3. Hence, the mode of inheritance should be changed to MONOALLELIC only, until more evidence emerges for the BIALLELIC association.; to: Comment on mode of inheritance: There is currently only 1 recessive pedigree reported in literature where 2 sibs with a neurodevelopmental disorder with seizures and brain abnormalities harboured a homozygous frameshift CLCN3 variant. More than 20 individuals have been reported with an NDD and harbouring heterozygous missense variants in CLCN3. Hence, the mode of inheritance should be changed to MONOALLELIC only, until more evidence emerges for the BIALLELIC association. An expert_review tag was added to ensure GMS is in agreement on this demotion.
Early onset or syndromic epilepsy v9.80 CLCN3 Ida Ertmanska Tag Q3_26_expert_review tag was added to gene: CLCN3.
Tag Q3_26_MOI tag was added to gene: CLCN3.
Early onset or syndromic epilepsy v9.80 CLCN3 Ida Ertmanska reviewed gene: CLCN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34186028; Phenotypes: ?Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517, Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v3.30 CLCN3 Arina Puzriakova Tag Q3_21_rating was removed from gene: CLCN3.
Early onset or syndromic epilepsy v3.29 CLCN3 Arina Puzriakova edited their review of gene: CLCN3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.28 CLCN3 Arina Puzriakova Source Expert Review Green was added to CLCN3.
Source NHS GMS was added to CLCN3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.427 CLCN3 Arina Puzriakova Entity copied from Intellectual disability v3.1299
Early onset or syndromic epilepsy v2.427 CLCN3 Arina Puzriakova gene: CLCN3 was added
gene: CLCN3 was added to Genetic epilepsy syndromes. Sources: Expert Review Amber,Literature
Q3_21_rating tags were added to gene: CLCN3.
Mode of inheritance for gene: CLCN3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CLCN3 were set to 34186028
Phenotypes for gene: CLCN3 were set to Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517
Mode of pathogenicity for gene: CLCN3 was set to Other