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Hereditary neuropathy NOT PMP22 copy number

Gene: PIGB

Amber List (moderate evidence)

PIGB (phosphatidylinositol glycan anchor biosynthesis class B)
EnsemblGeneIds (GRCh38): ENSG00000069943
EnsemblGeneIds (GRCh37): ENSG00000069943
OMIM: 604122, Gene2Phenotype
PIGB is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Axonal degenerative polyneuropathy and demyelinating sensorimotor polyneuropathy are observed in the more severely affected individuals with biallelic variants in this gene. There are sufficient cases with a relevant phenotype (5 individuals from 3 families) to rate as Green at the next GMS panel update.
Created: 28 Sep 2021, 2:34 p.m. | Last Modified: 28 Sep 2021, 2:34 p.m.
Panel Version: 1.62

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

Murakami et al., reported 10 cases with biallelic PIGB variants with complex and severe phenotype, of whom 4 had peripheral neuropathy.
Sources: Literature
Created: 7 Jun 2021, 10:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability; developmental delay; epilepsy; axonal neuropathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Developmental and epileptic encephalopathy 80, OMIM:618580
Tags
Q3_21_rating
OMIM
604122
Clinvar variants
Variants in PIGB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pigb has been classified as Amber List (Moderate Evidence).

28 Sep 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: PIGB.

21 Jun 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PIGB were changed from intellectual disability; developmental delay; epilepsy; axonal neuropathy to Developmental and epileptic encephalopathy 80, OMIM:618580

7 Jun 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Dmitrijs Rots (RadboudUMC)

gene: PIGB was added gene: PIGB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGB were set to 31256876 Phenotypes for gene: PIGB were set to intellectual disability; developmental delay; epilepsy; axonal neuropathy Penetrance for gene: PIGB were set to Complete Review for gene: PIGB was set to GREEN gene: PIGB was marked as current diagnostic