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  2. BRIDGE_SPEED_NEURO_20170705
  3. FOXC1
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BRIDGE_SPEED_NEURO_20170705

Gene: FOXC1

Green List (high evidence)
FOXC1 (forkhead box C1)
EnsemblGeneIds (GRCh38): ENSG00000054598
EnsemblGeneIds (GRCh37): ENSG00000054598
OMIM: 601090, Gene2Phenotype
FOXC1 is in 15 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;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 9:09 a.m.

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

Publications

Created: 2 Aug 2017, 3:16 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 11:55 a.m.
Created: 31 Jul 2017, 11:55 a.m.

Panel version: 0.64

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Iridogoniodysgenesis, type 1, 601631
  • Rieger or Axenfeld anomalies, 602482
  • Axenfeld-Rieger syndrome, type 3, 602482
  • Iris hypoplasia and glaucoma, 601631
OMIM
601090
Clinvar variants
Variants in FOXC1
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FOXC1 were set to Iridogoniodysgenesis, type 1, 601631; Rieger or Axenfeld anomalies, 602482; Axenfeld-Rieger syndrome, type 3, 602482; Iris hypoplasia and glaucoma, 601631

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

FOXC1 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

FOXC1 was created by LouiseD