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Intellectual disability syndromic and non-syndromic

Gene: ASCC3

Green List (high evidence)

ASCC3 (activating signal cointegrator 1 complex subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000112249
EnsemblGeneIds (GRCh37): ENSG00000112249
OMIM: 614217, Gene2Phenotype
ASCC3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Combined neuromuscular and neurobehavioral phenotype.

11 individuals from 7 unrelated families with homozygous (missense) or compound heterozygous variants (missense with a presumed LoF variant or 2 missense, no biallelic LoF) with a neurologic phenotype that ranges from severe developmental delay to muscle fatigue
Sources: Expert Review
Created: 5 Feb 2024, 2:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 81, MIM# 620700

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 81, MIM# 620700
OMIM
614217
Clinvar variants
Variants in ASCC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ascc3 has been classified as Green List (High Evidence).

5 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ascc3 has been classified as Green List (High Evidence).

5 Feb 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASCC3 was added gene: ASCC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC3 were set to 21937992; 35047834 Phenotypes for gene: ASCC3 were set to Intellectual developmental disorder, autosomal recessive 81, MIM# 620700 Review for gene: ASCC3 was set to GREEN