Hereditary Neuropathy - complex
Gene: ABCA1
Neuropathy is a feature of this metabolic disorder. 54 individuals with neuropathy summarised in PMID 29582519.Created: 2 Aug 2023, 4:45 a.m. | Last Modified: 2 Aug 2023, 4:48 a.m.
Panel Version: 0.205
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tangier Disease (MONDO:0008783; MIM#205400)
Publications
Clinical signs of Tangier disease include hyper plastic yellow-orange tonsils, hepatosplenomegaly and peripheral neuropathy. Neuropathy can be either relapsing remitting or chronic progressive feature however isn't reported in many families as a feature in ABCA1-related Tangier Disease.
PMID: 31751110 - LoF variants disrupt protein trafficking result in reduced protein activity.
PMID: 4165386
two siblings present with homozygous mutations causative of Tangier Disease. Both siblings had symptoms of neuropathy in conjunction with low total plasma cholesterol.Created: 1 Aug 2023, 2:28 a.m. | Last Modified: 1 Aug 2023, 2:28 a.m.
Panel Version: 0.205
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tangier Disease (MONDO:0008783; MIM#205400)
Publications
Gene: abca1 has been classified as Green List (High Evidence).
Phenotypes for gene: ABCA1 were changed from HMSN; Tangier disease to Tangier Disease (MONDO:0008783; MIM#205400)
Publications for gene: ABCA1 were set to
gene: ABCA1 was added gene: ABCA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA1 were set to HMSN; Tangier disease