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Mendeliome

Gene: HYOU1

Green List (high evidence)

HYOU1 (hypoxia up-regulated 1)
EnsemblGeneIds (GRCh38): ENSG00000149428
EnsemblGeneIds (GRCh37): ENSG00000149428
OMIM: 601746, Gene2Phenotype
HYOU1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID:35549617 reported another case with homozgyous variant (p.Arg486Cys) and anaemia, thrombocytopenia and severe panleukopenia and immunodeficiency.
Created: 15 Oct 2023, 6:52 a.m. | Last Modified: 15 Oct 2023, 6:52 a.m.
Panel Version: 1.1286
Second individual reported in PMID: 35822684 with severe neutropenia.
Created: 21 Jul 2022, 5:30 a.m. | Last Modified: 21 Jul 2022, 5:30 a.m.
Panel Version: 1.164
Single individual reported.
Sources: Expert list
Created: 5 Apr 2020, 5:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 59 and hypoglycemia, MIM# 233600

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 59 and hypoglycemia, MIM# 233600
OMIM
601746
Clinvar variants
Variants in HYOU1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hyou1 has been classified as Green List (High Evidence).

21 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hyou1 has been classified as Amber List (Moderate Evidence).

5 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hyou1 has been classified as Red List (Low Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HYOU1 was added gene: HYOU1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: HYOU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYOU1 were set to 27913302 Phenotypes for gene: HYOU1 were set to Immunodeficiency 59 and hypoglycemia, MIM# 233600 Review for gene: HYOU1 was set to RED