Hereditary neuropathy or pain disorder
Gene: PIGBThe 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
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
Murakami et al., reported 10 cases with biallelic PIGB variants with complex and severe phenotype, of whom 4 had peripheral neuropathy.
Sources: LiteratureCreated: 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
Tag Q3_21_rating was removed from gene: PIGB.
Source Expert Review Green was added to PIGB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: pigb has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: PIGB.
Phenotypes for gene: PIGB were changed from intellectual disability; developmental delay; epilepsy; axonal neuropathy to Developmental and epileptic encephalopathy 80, OMIM:618580
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