Hereditary neuropathy or pain disorder

Gene: PIGG

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 12 Mar 2026, 10:01 a.m. | Last Modified: 12 Mar 2026, 10:01 a.m.

Panel Version: 7.41

Comment on list classification: As reviewed by Christopher Record, there are six unrelated families reported with biallelic PIGG variants and hereditary motor neuropathy. Hence, this gene can be promoted to green rating in the next GMS review.

Created: 23 Dec 2024, 4:02 p.m. | Last Modified: 23 Dec 2024, 4:02 p.m.

Panel Version: 6.143

PMID:39444079 reported eight patients from six unrelated families with a childhood-onset motor neuropathy and neurophysiology demonstrating variable motor conduction block and temporal dispersion. All individuals had a childhood onset tremor, 5 of 8 had cerebellar involvement, and 6 of 8 had childhood febrile seizures. All of them were identified with biallelic variants in PIGG gene, which include previously reported pathogenic variant p.Trp505Ter and six novel variants.

Created: 23 Dec 2024, 4 p.m. | Last Modified: 23 Dec 2024, 4 p.m.

Panel Version: 6.141

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917; childhood-onset motor neuropathy

Publications

• 39444079

Green List (high evidence)

Recessive variants in PIGG cause a inherited motor neuropathy with conduction block and/or temporal dispersion (39444079). This can be a pure neuropathy of part of a wider IGD syndrome to include cerebellar features, developmental delay, intellectual disability.
Sources: Literature

Created: 14 Nov 2024, 12:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HMN

Publications

• 39444079