Differences of Sex Development
Gene: AXL

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

24476074

Created: 1 Nov 2023, 3:46 a.m.

Panel version: 0.293

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

24476074

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