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  3. CYHR1
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Intellectual disability syndromic and non-syndromic

Gene: CYHR1

Green List (high evidence)
CYHR1 (cysteine and histidine rich 1)
EnsemblGeneIds (GRCh38): ENSG00000187954
EnsemblGeneIds (GRCh37): ENSG00000187954
OMIM: 616635, Gene2Phenotype
CYHR1 is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

3 variants in 5 affected individuals from 3 unrelated families (Family 1 Yemeni consanguineous 3 affected siblings with homozygous p.Phe362Cysfs*18; Family 2 non-consanguineous German proband with homozygous p.Leu388Glyfs*49 due to paternal UPD of chromosome 8; Family 3 Spanish with homozygous c.612-2A>C, alters splicing in RNA studies). All the affected members show developmental delay, variable degrees of intellectual disability, and muscular hypotonia. Microcephaly present in 4/5 individuals. In vitro studies demonstrated altered subcellular localisation of mutant ZFTRAF1. Lysosomal accumulation and defective autophagy present in patient-derived fibroblasts. Loss of function is the suggested mechanism of disease.
(ESHG 2023 presentation now published)
Created: 30 Apr 2024, 7:41 a.m. | Last Modified: 30 Apr 2024, 7:41 a.m.
Panel Version: 0.5792

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder MONDO:0700092, ZTRAF1-related

Publications

Created: 30 Apr 2024, 7:41 a.m.
Last Modified: 30 Apr 2024, 7:41 a.m.
Panel version: 0.5792

Chirag Patel (Genetic Health Queensland)

I don't know

ESHG 2023:
5 individuals from 3 families with biallelic LOF variants in CYHR1 (aka ZTRAF1). Presentation with microcephaly, hypotonia, DD, and ID. Expression studies showed mislocalisation of CYHR1. Mutant fibroblasts showed increased lysosomal markers and upregulated lysosomal proteins, leading to impaired autophagy. Zebrafish KO however did not show a phenotype.
Sources: Other
Created: 24 Jul 2023, 7:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder and microcephaly

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Jul 2023, 7:41 a.m.

Panel version: 0.5271

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related
Tags
new gene name
OMIM
616635
Clinvar variants
Variants in CYHR1
Penetrance
None
Panels with this gene

History Filter Activity

30 Apr 2024, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cyhr1 has been classified as Green List (High Evidence).

26 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyhr1 has been classified as Amber List (Moderate Evidence).

26 Jul 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYHR1 were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related

24 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: cyhr1 has been classified as Amber List (Moderate Evidence).

24 Jul 2023, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: CYHR1 was added gene: CYHR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: CYHR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYHR1 were set to Neurodevelopmental disorder and microcephaly Review for gene: CYHR1 was set to AMBER gene: CYHR1 was marked as current diagnostic