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Intellectual disability v8.235 CLCN7 Arina Puzriakova Added comment: Comment on publications: PMID: 39994654 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Intellectual disability v8.235 CLCN7 Arina Puzriakova Publications for gene: CLCN7 were set to
Intellectual disability v8.234 CLCN7 Arina Puzriakova edited their review of gene: CLCN7: Added comment: PMID: 39994654 (2025) - a novel frameshift variant c.175dupA (p.Met59Asnfs*8) in CLCN7 was identified in a family with suspected ADO-II. The proband was homozygous for the variant and presented with intellectual disability, among features of osteopetrosis, deafness, optic atrophy, hepatosplenomegaly, cleft palate and recurrent infection. The variant showed incomplete penetrance in heterozygous family members.

Intellectual disability does not appear to be a typical feature and therefore maintaining the Red rating for now.; Changed publications to: 39994654
Intellectual disability v3.1378 CLCN7 Arina Puzriakova Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4, 611490; Osteopetrosis, autosomal dominant 2, 166600 to Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600
Intellectual disability v3.1377 CLCN7 Arina Puzriakova Mode of inheritance for gene: CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v3.421 CLCN7 Arina Puzriakova Source Expert Review Red was added to CLCN7.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.250 CLCN7 Arina Puzriakova commented on gene: CLCN7
Intellectual disability v3.0 CLCN7 Zornitza Stark reviewed gene: CLCN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability CLCN7 BRIDGE consortium edited their review of CLCN7
Intellectual disability CLCN7 Louise Daugherty classified CLCN7 as amber
Intellectual disability CLCN7 Louise Daugherty commented on CLCN7
Intellectual disability CLCN7 BRIDGE consortium reviewed CLCN7