Phagocyte Defects

Gene: HYOU1

Green List (high evidence)

In addition to the two cases provided in the reviews below, PMID:35549617 reported another case with homozgyous variant (p.Arg486Cys) and anemia, thrombocytopenia and severe panleukopenia and immunodeficiency. Hence, this gene can be promoted to green rating.

Created: 13 Oct 2023, 5:28 p.m. | Last Modified: 13 Oct 2023, 5:28 p.m.

Panel Version: 1.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Immunodeficiency 59 and hypoglycemia, OMIM:233600

Publications

• 35549617

Red List (low evidence)

4yo girl, compound heterozygous c.69G>C and c.2744G>A variants presenting with severe neutropaenia

Created: 21 Jul 2022, 1:37 a.m. | Last Modified: 21 Jul 2022, 1:37 a.m.

Panel Version: 1.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe congenital neutropaenia

Publications

• PMID: 35822684

I don't know

Comment when marking as ready: Promoted to Amber as two individuals now reported.

Created: 21 Jul 2022, 5:29 a.m. | Last Modified: 21 Jul 2022, 5:29 a.m.

Panel Version: 1.6

Single individual reported.
Sources: Expert list

Created: 5 Apr 2020, 5:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 59 and hypoglycemia, MIM# 233600

Publications

• 27913302