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

Intellectual disability syndromic and non-syndromic

Gene: ALX4

Amber List (moderate evidence)

ALX4 (ALX homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000052850
EnsemblGeneIds (GRCh37): ENSG00000052850
OMIM: 605420, Gene2Phenotype
ALX4 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Majority of affected individuals have normal intelligence.
Created: 28 Jan 2020, 10:08 a.m. | Last Modified: 28 Jan 2020, 10:08 a.m.
Panel Version: 0.1739

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frontonasal dysplasia 2, MIM# 613451

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Frontonasal dysplasia 2, MIM# 613451
OMIM
605420
Clinvar variants
Variants in ALX4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alx4 has been classified as Amber List (Moderate Evidence).

28 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2, MIM# 613451

28 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALX4 were set to

28 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

28 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alx4 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: ALX4 was added gene: ALX4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ALX4 was set to Unknown