Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: AXL
None of the variants have convincing evidence of pathogenicity.Created: 1 Nov 2023, 3:49 a.m. | Last Modified: 1 Nov 2023, 3:49 a.m.
Panel Version: 0.321
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Axl null mice had delayed first oestrus and persistently abnormal oestrous cyclicality compared with wild-type controls. Only a single study reported screening human cases. In a screen of 104 probands with KS or nIHH, four heterozygous AXL mutations were identified in two KS and two nIHH unrelated subjects (two males and two females). Three of the variants appear to be too common in gnomAD v2.1 given the reported prevalence of KS reported in GeneReviews (1:30,000 in males and 1:125,000 in females): c.587-6C>T (normal splicing in RNA studies, NFE AF 0.0001472), p.Q361P (NFE 0.002560), p.L50F (AJ 0.004405). The other variant p.S202C (4 hets, 1 female in gnomAD v2.1) is rare enough in gnomAD for a dominant disorder. In vitro functional assays were conducted and p.S202C had an significant effect on function, but so did the more common variant p.Q361P.Created: 25 Jun 2020, 5:41 a.m. | Last Modified: 25 Jun 2020, 5:41 a.m.
Panel Version: 0.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kallman syndrome; normosmic idiopathic hypogonadotropic hypogonadism
Publications
Mode of inheritance for gene: AXL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: axl has been classified as Red List (Low Evidence).
Phenotypes for gene: AXL were changed from to Kallman syndrome; normosmic idiopathic hypogonadotropic hypogonadism
Publications for gene: AXL were set to
Gene: axl has been classified as Amber List (Moderate Evidence).
Gene: axl has been classified as Amber List (Moderate Evidence).
gene: AXL was added gene: AXL was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AXL was set to