Retinal disorders
Gene: ZFYVE26EnsemblGeneIds (GRCh38): ENSG00000072121
EnsemblGeneIds (GRCh37): ENSG00000072121
OMIM: 612012, Gene2Phenotype
ZFYVE26 is in 16 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:43 a.m. | Last Modified: 8 Mar 2022, 10:43 a.m.
Panel Version: 2.245
Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 17 Feb 2021, 4:47 p.m. | Last Modified: 17 Feb 2021, 4:47 p.m.
Panel Version: 2.172
Zornitza Stark (Australian Genomics)
Retinal degeneration can be a feature of this condition.
Sources: Expert listCreated: 15 Oct 2020, 9:49 a.m.
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spastic paraplegia 15, autosomal recessive OMIM:270700
- OMIM
- 612012
- Clinvar variants
- Variants in ZFYVE26
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Retinal disorders
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating was removed from gene: ZFYVE26.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to ZFYVE26. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: zfyve26 has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: ZFYVE26.
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: ZFYVE26 were set to 18394578; 14409555; 19805727
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: ZFYVE26 were set to 18394578; 14409555
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive MIM#270700 to Spastic paraplegia 15, autosomal recessive OMIM:270700
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: ZFYVE26 was added gene: ZFYVE26 was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE26 were set to 18394578; 14409555 Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive MIM#270700 Review for gene: ZFYVE26 was set to GREEN gene: ZFYVE26 was marked as current diagnostic