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  2. BRIDGE_SPEED_NEURO_20170705
  3. FAM58A
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BRIDGE_SPEED_NEURO_20170705

Gene: FAM58A

Green List (high evidence)
FAM58A (cyclin Q)
EnsemblGeneIds (GRCh38): ENSG00000262919
EnsemblGeneIds (GRCh37): ENSG00000147382
OMIM: 300708, Gene2Phenotype
FAM58A is in 7 panels

2 reviews

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: 28 Jul 2017, 9:06 a.m.

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

Publications

Created: 2 Aug 2017, 3:02 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: changed MOI from monoallelic to XLD
Created: 25 Sep 2017, 2:44 p.m.
added new-gene-name tag, new approved HGNC gene symbol is CCNQ
Created: 28 Jul 2017, 8:47 a.m.
Created: 28 Jul 2017, 8:47 a.m.

Panel version: 0.8

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
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • STAR syndrome, 300707
Tags
new-gene-name
OMIM
300708
Clinvar variants
Variants in FAM58A
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Sep 2017, Gel status: 4

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)

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

FAM58A was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

FAM58A was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green