Ocular and oculo-cutaneous albinism
Gene: LYSTComment on list classification: Gene added from expert list, and rated green, diagnostic grade by the expert. Associated with Chediak-Higashi syndrome in OMIM, and is a confirmed DD gene for Chediak-Higashi Syndrome. 3 cases reported in OMIM where oculocutaneous albinism or partial oculocutaneous albinism is described, multiple different variants reported in cases with Chediak-Higashi syndrome.Created: 7 Sep 2016, 3:40 p.m.
Phenotypes
oculo-cutaneous albinism
Variants in this GENE are reported as part of current diagnostic practice
13.09.2016: Panel internally revised after expert review, and approved to version 1.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for LYST was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for LYST were set to 8896560; 9215679; 10482950; 20301751 - "Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency."
Phenotypes for LYST were set to oculo-cutaneous albinism; Chediak-Higashi syndrome;optic neuropathy with progressive vision loss
This gene has been classified as Amber List (Moderate Evidence).
Publications for LYST were set to 8896560;9215679;10482950
Phenotypes for LYST were set to oculo-cutaneous albinism;Chediak-Higashi syndrome
This gene has been classified as Red List (Low Evidence).
LYST was created by PennyC
LYST was added to Ocular and oculo-cutaneous albinismpanel. Sources: Expert list