Hereditary neuropathy
Gene: LYSTEnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 24 panels
2 reviews
Louise Daugherty (Genomics England Curator)
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.Created: 11 Jun 2019, 1:40 p.m.
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy.
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Chediak-Higashi syndrome, 214500
- Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
- OMIM
- 606897
- Clinvar variants
- Variants in LYST
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ocular and oculo-cutaneous albinism
- Cytopenia - NOT Fanconi anaemia
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Bleeding and platelet disorders
- COVID-19 research
- Infantile nystagmus
- Vici Syndrome and other autophagy disorders
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Pigmentary skin disorders
- Intellectual disability
- Fetal anomalies
- DDG2P
- Childhood onset hereditary spastic paraplegia
- Parkinson Disease and Complex Parkinsonism
- Hereditary spastic paraplegia
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Inherited bleeding disorders
- Adult onset hereditary spastic paraplegia
History Filter Activity
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to LYST. Rating Changed from Red List (low evidence) to Green List (high evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, 214500; Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: LYST were set to
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: LYST was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to LYST.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: LYST was added gene: LYST was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: LYST was set to