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Intellectual disability

Gene: ASCC3

Amber List (moderate evidence)

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

4 reviews

Ivone Leong (Genomics England Curator)

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.
Created: 12 Jul 2021, 12:44 p.m. | Last Modified: 12 Jul 2021, 12:44 p.m.
Panel Version: 3.1170

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Candidate gene variants found in 32 ID probands (13/28 potentially pathogenic), no additional information provided (pmid 26350204). Not associated with phenotype in OMIM, but is a possible G2P associated gene. At least 1 variant reported in on non-syndromic case
Created: 31 Oct 2017, 9:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
OMIM
614217
Clinvar variants
Variants in ASCC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ascc3 has been classified as Amber List (Moderate Evidence).

12 Jul 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ASCC3 were set to 21937992; 26350204

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene ASCC3 was set to ['21937992', ' 26350204']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ASCC3 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ASCC3 was added to Intellectual disabilitypanel. Sources: Expert Review Red