1. Panels
  2. DDG2P
  3. ASCC3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: ASCC3

Red List (low evidence)
ASCC3 (activating signal cointegrator 1 complex subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000112249
EnsemblGeneIds (GRCh37): ENSG00000112249
OMIM: 614217, Gene2Phenotype
ASCC3 is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

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)
Created: 3 Apr 2024, 11:24 a.m. | Last Modified: 3 Apr 2024, 11:24 a.m.
Panel Version: 3.86
Created: 3 Apr 2024, 11:24 a.m.
Last Modified: 3 Apr 2024, 11:24 a.m.
Panel version: 3.86

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ASCC3-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00133.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:21937992).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; ASCC3-related intellectual developmental disorder; OMIM:620700.0; MONDO:0958204

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 81, OMIM:620700
OMIM
614217
Clinvar variants
Variants in ASCC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: ASCC3 was changed from Other to None

3 Apr 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ASCC3 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Intellectual developmental disorder, autosomal recessive 81, OMIM:620700

3 Apr 2024, Gel status: 1

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: ASCC3.

4 Oct 2023, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene ASCC3 was changed from Other - please provide details in the comments to Other

7 Feb 2023, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: ASCC3.

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: ASCC3 was added gene: ASCC3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC3 were set to 21937992 Phenotypes for gene: ASCC3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ASCC3 was set to Other - please provide details in the comments