Early-onset Parkinson disease
Gene: ZFYVE26EnsemblGeneIds (GRCh38): ENSG00000072121
EnsemblGeneIds (GRCh37): ENSG00000072121
OMIM: 612012, Gene2Phenotype
ZFYVE26 is in 16 panels
1 review
SHEKEEB MOHAMMAD (Children's Hospital at Westmead)
Sources: LiteratureCreated: 17 Jul 2022, 11:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia and retinal degeneration; Kjellin syndrome; Parkinsonism; OMIM 270700
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spastic paraplegia 15, autosomal recessive, MIM# 270700
- Spastic paraplegia and retinal degeneration
- Kjellin syndrome
- Parkinsonism
- OMIM
- 612012
- Clinvar variants
- Variants in ZFYVE26
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Hereditary Neuropathy - complex
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Early-onset Parkinson disease
- Hereditary Spastic Paraplegia - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Ataxia - adult onset
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zfyve26 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia and retinal degeneration; Kjellin syndrome; Parkinsonism; OMIM 270700 to Spastic paraplegia 15, autosomal recessive, MIM# 270700; Spastic paraplegia and retinal degeneration; Kjellin syndrome; Parkinsonism
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zfyve26 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
SHEKEEB MOHAMMAD (Children's Hospital at Westmead)gene: ZFYVE26 was added gene: ZFYVE26 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE26 were set to PMID: 33033739; 21462267 Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia and retinal degeneration; Kjellin syndrome; Parkinsonism; OMIM 270700 Review for gene: ZFYVE26 was set to GREEN