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Hereditary neuropathy NOT PMP22 copy number

Gene: PIGB

Green List (high evidence)

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

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 1:08 p.m. | Last Modified: 14 Mar 2022, 1:08 p.m.
Panel Version: 1.88

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 Green
Phenotypes
  • Developmental and epileptic encephalopathy 80, OMIM:618580
OMIM
604122
Clinvar variants
Variants in PIGB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating was removed from gene: PIGB.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to PIGB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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