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Intellectual disability v9.299 ASCC3 Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: ASCC3.
Intellectual disability v9.299 ASCC3 Arina Puzriakova edited their review of gene: ASCC3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability v9.298 ASCC3 Arina Puzriakova Source NHS GMS was added to ASCC3.
Source Expert Review Green was added to ASCC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v8.204 ASCC3 Arina Puzriakova Tag Q1_25_ promote_green tag was added to gene: ASCC3.
Intellectual disability v8.204 ASCC3 Arina Puzriakova commented on gene: ASCC3: PMID: 39286456 (2024) - three additional unrelated families identified with biallelic variants in the ASCC3 gene. All affected individuals had developmental delay and muscle fatigue. Other features included intellectual disability, hypotonia, motor impairment, feeding difficulties, and proximal/truncal muscle weakness.

Review of all reported cases (21 individuals) to date showed clinical heterogeneity, however most patients did exhibit intellectual disability of varying severity which can be the main presenting feature. Overall this supports inclusion of this gene on the panel.
Intellectual disability v8.204 ASCC3 Arina Puzriakova Added comment: Comment on publications: PMID: 39286456 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 v8.204 ASCC3 Arina Puzriakova Publications for gene: ASCC3 were set to 21937992; 26350204; https://doi.org/10.1016/j.xhgg.2021.100024
Intellectual disability v5.515 ASCC3 Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Intellectual developmental disorder, autosomal recessive 81, OMIM:620700)
Intellectual disability v5.515 ASCC3 Arina Puzriakova Phenotypes for gene: ASCC3 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Intellectual developmental disorder, autosomal recessive 81, OMIM:620700
Intellectual disability v5.514 ASCC3 Arina Puzriakova Tag gene-checked was removed from gene: ASCC3.
Intellectual disability v4.61 ASCC3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ASCC3.
Intellectual disability v3.1170 ASCC3 Ivone Leong Classified gene: ASCC3 as Amber List (moderate evidence)
Intellectual disability v3.1170 ASCC3 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. New publication (https://doi.org/10.1016/j.xhgg.2021.100024) describing 11 individuals from 7 unrelated families (1 family was originally described in PMID: 21937992 and had mild ID). Patients had phenotypes ranging from mild to severe developmental dealys. As ID is not the prominant phenotype, this gene has been given an Amber rating.
Intellectual disability v3.1170 ASCC3 Ivone Leong Gene: ascc3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.1168 ASCC3 Ivone Leong Publications for gene: ASCC3 were set to 21937992; 26350204