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Intellectual disability

Gene: SIN3A

Green List (high evidence)

SIN3A (SIN3 transcription regulator family member A)
EnsemblGeneIds (GRCh38): ENSG00000169375
EnsemblGeneIds (GRCh37): ENSG00000169375
OMIM: 607776, Gene2Phenotype
SIN3A is in 4 panels

3 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Milder end of the ID spectrum but overall appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 4:37 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017 . Main mutation mechanism : loss of function
Created: 27 Jul 2017, 8:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 29 Sep 2018, 7:20 p.m.
In Witteveen et al. 2016, 6 patients from 2 unrelated families and in 3 unrelated singleton patients were found with Witteveen-Kolk syndrome.
Created: 29 Nov 2017, 2:10 p.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 3:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Witteveen-Kolk syndrome, 613406; SYNDROMIC INTELLECTUAL DISABILITY

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Witteveen-Kolk syndrome, 613406
  • Syndromic intellectual disability
OMIM
607776
Clinvar variants
Variants in SIN3A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: sin3a has been classified as Green List (High Evidence).

29 Sep 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to SIN3A.

12 Mar 2018, Gel status: 4

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.

19 Dec 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SIN3A were set to 27399968; 28135719; 25529582

29 Nov 2017, Gel status: 4

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to SIN3A. Panel: Intellectual disability Publications for gene SIN3A was set to [' 27399968', ' 28135719']

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

SIN3A was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

SIN3A was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene