Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: HAX1

Amber List (moderate evidence)

HAX1 (HCLS1 associated protein X-1)
EnsemblGeneIds (GRCh38): ENSG00000143575
EnsemblGeneIds (GRCh37): ENSG00000143575
OMIM: 605998, Gene2Phenotype
HAX1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Some affected individuals have had severe ID (proportion unclear) but all have neutropaenia.
Created: 7 Feb 2020, 1:53 a.m. | Last Modified: 7 Feb 2020, 1:53 a.m.
Panel Version: 0.2021

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738
OMIM
605998
Clinvar variants
Variants in HAX1
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738

7 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hax1 has been classified as Amber List (Moderate Evidence).

7 Feb 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738

7 Feb 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HAX1 were changed from to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738

7 Feb 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hax1 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HAX1 was added gene: HAX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HAX1 was set to Unknown