AXL

AXL receptor tyrosine kinase
OMIM: 109135, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red AXL in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related

Red AXL in Mendeliome


Version 1.3795

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Kallman syndrome, MONDO:0018800, AXL-related
  • normosmic idiopathic hypogonadotropic hypogonadism

Red AXL in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.391

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Kallman syndrome
  • normosmic idiopathic hypogonadotropic hypogonadism

Red AXL in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.166

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
  • Expert Review
  • Expert Review
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related

Red AXL in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Hypogonadotropic hypogonadism

Red AXL in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypogonadotropic hypogonadism

Red AXL in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.74

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • Expert Review Red
  • Expert Review
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related