Differences of Sex Development

Gene: AXL

Red List (low evidence)

AXL (AXL receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000167601
EnsemblGeneIds (GRCh37): ENSG00000167601
OMIM: 109135, Gene2Phenotype
AXL is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Four variants reported in individuals with KS/IHH. One is non-canonical splice site variant (c.586-6 C>T) but authors demonstrate no abnormal splicing occurs. Remainder are missense. Segregation in one family only: inherited from phenotypically normal parent. Axl null mice demonstrated delay in first estrus and the interval between vaginal opening and first estrus
Sources: Expert Review
Created: 1 Nov 2023, 3:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related
OMIM
109135
Clinvar variants
Variants in AXL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Nov 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AXL was added gene: AXL was added to Differences of Sex Development. Sources: Expert Review Mode of inheritance for gene: AXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AXL were set to 24476074 Phenotypes for gene: AXL were set to Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related Review for gene: AXL was set to RED