Hereditary Neuropathy - complex
Gene: LYST
Neuropathy features with a childhood to early adult onset is a suspected clinical feature of Chediak-Higashi syndrome (CHS)
PMID: 24521565
two siblings from a consanguineous family
with spastic paraplegia, cerebella ataxia and peripheral neuropathy
Identified a homozygous mutation in LYST.
PMID: 15790783
Patient with CHS at 2.5 yr old.
Identified with R1103X mutation and electrophysiological studies showed moderate distal motor-snesory axonal neuropathy.Created: 14 Jul 2023, 1:12 a.m. | Last Modified: 14 Jul 2023, 1:12 a.m.
Panel Version: 0.169
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chediak-Higashi syndrome MIM#214500; MONDO:0008963
Publications
Gene: lyst has been classified as Green List (High Evidence).
Phenotypes for gene: LYST were changed from Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy; Chediak-Higashi syndrome, 214500 to Chediak-Higashi syndrome MIM#214500; MONDO:0008963
Publications for gene: LYST were set to
gene: LYST was added gene: LYST was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LYST were set to Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy; Chediak-Higashi syndrome, 214500