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Intellectual disability

Gene: FAM58A

Red List (low evidence)

FAM58A (cyclin Q)
EnsemblGeneIds (GRCh38): ENSG00000262919
EnsemblGeneIds (GRCh37): ENSG00000147382
OMIM: 300708, Gene2Phenotype
FAM58A is in 9 panels

6 reviews

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This is a confirmed DD gene for STAR syndrome. Patients reported with normal intellect - PMID 18297069.
Created: 13 Dec 2017, 9:46 p.m.

Phenotypes
STAR syndrome 300707

Caroline Wright (Sanger)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
STAR SYNDROME

Louise Daugherty (Genomics England Curator)

I don't know

Comment on publications: added publications to support some early inference to ID phenotype, although not confirmed
Created: 25 Sep 2017, 3:04 p.m.
Comment on mode of inheritance: MOI from MONOALLELIC to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Created: 25 Sep 2017, 2:57 p.m.
more than three cases in decipher listed having global developmental delay
Created: 25 Sep 2017, 2:54 p.m.
Comment on mode of inheritance: Changed MOI from Monoallelic to XLD.
Created: 25 Sep 2017, 2:49 p.m.
added new-gene-name tag, new approved HGNC gene symbol is CCNQ
Created: 28 Jul 2017, 8:40 a.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_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 5:43 p.m.

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

Publications

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Not an ID gene
Created: 7 Feb 2016, 8:26 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Expert Review Red
Phenotypes
  • STAR syndrome 300707
Tags
new-gene-name
OMIM
300708
Clinvar variants
Variants in FAM58A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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.

25 Sep 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FAM58A were set to 25529582; 26350204

25 Sep 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for FAM58A was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

25 Sep 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FAM58A were set to STAR SYNDROME, 300707; Intellectual disability

25 Sep 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for FAM58A was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

25 Sep 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FAM58A were set to STAR SYNDROME, 300707

7 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

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

Added New Source

Ellen McDonagh (Genomics England Curator)

FAM58A was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FAM58A was created by ellenmcdonagh