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DDG2P

Gene: CYHR1

Red List (low evidence)
CYHR1 (cysteine and histidine rich 1)
EnsemblGeneIds (GRCh38): ENSG00000187954
EnsemblGeneIds (GRCh37): ENSG00000187954
OMIM: 616635, Gene2Phenotype
CYHR1 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The 'new-gene-symbol' tag has been added as the HGNC approved official gene symbol for CYHR1 is ZFTRAF1.
Created: 20 Feb 2026, 7:50 p.m. | Last Modified: 20 Feb 2026, 7:51 p.m.
Panel Version: 6.419
The DDG2P confidence category, allelic requirement and molecular mechanism for ZFTRAF1-related neurodevelopmental disorder are limited, biallelic_autosomal and loss of function (PMID:38641995). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03563.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease ZFTRAF1-related neurodevelopmental disorder is limited. The allelic requirement and mutation consequence are biallelic_autosomal and decreased gene product level (PMID: 38641995).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ZFTRAF1-related neurodevelopmental disorder; MONDO:0700092

Publications

Mode of pathogenicity
Other

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 20 Feb 2026, 7:51 p.m.
Panel version: 6.419

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • ZFTRAF1-related neurodevelopmental disorder
Tags
new-gene-name
OMIM
616635
Clinvar variants
Variants in CYHR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag new-gene-name tag was added to gene: CYHR1.

20 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: CYHR1 was changed from Other to None

21 Feb 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CYHR1 was added gene: CYHR1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CYHR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYHR1 were set to 38641995 Phenotypes for gene: CYHR1 were set to ZFTRAF1-related neurodevelopmental disorder Mode of pathogenicity for gene: CYHR1 was set to Other