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  2. BRIDGE_SPEED_NEURO_20170705
  3. PIGA
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BRIDGE_SPEED_NEURO_20170705

Gene: PIGA

Green List (high evidence)
PIGA (phosphatidylinositol glycan anchor biosynthesis class A)
EnsemblGeneIds (GRCh38): ENSG00000165195
EnsemblGeneIds (GRCh37): ENSG00000165195
OMIM: 311770, Gene2Phenotype
PIGA is in 12 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_omim_20150205_epilepsies . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 10:33 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Created: 2 Aug 2017, 5:59 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 1:54 p.m.
Created: 31 Jul 2017, 1:54 p.m.

Panel version: 0.121

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Paroxysmal nocturnal hemoglobinuria, somatic, 300818
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868
OMIM
311770
Clinvar variants
Variants in PIGA
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PIGA were set to Paroxysmal nocturnal hemoglobinuria, somatic, 300818; Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PIGA was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

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