Syndromic Retinopathy
Gene: ZFYVE26EnsemblGeneIds (GRCh38): ENSG00000072121
EnsemblGeneIds (GRCh37): ENSG00000072121
OMIM: 612012, Gene2Phenotype
ZFYVE26 is in 16 panels
2 reviews
Ain Roesley (Victorian Clinical Genetics Services)
Genereviews:
>70 individuals reported.
While onset of spasticity is typically in mid- to late childhood or adolescence (i.e., between ages 5 and 18 years), other manifestations, such as developmental delay or learning disability, may be present earlier, often preceding motor involvement. Individuals with adult onset have also been reported.Created: 14 Feb 2022, 12:51 a.m. | Last Modified: 14 Feb 2022, 12:54 a.m.
Panel Version: 0.10953
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 15, autosomal recessive MIM#270700
Publications
Variants in this GENE are reported as part of current diagnostic practice
Bryony Thompson (Royal Melbourne Hospital)
Retinal degeneration can be a feature of this condition.Created: 7 Feb 2020, 10:18 p.m. | Last Modified: 7 Feb 2020, 10:18 p.m.
Panel Version: 0.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 15, autosomal recessive MIM#270700
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Spastic paraplegia 15, autosomal recessive MIM#270700
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: zfyve26 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ZFYVE26 was added gene: ZFYVE26 was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE26 were set to 31385551; 18394578; 14409555 Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive MIM#270700