HJV

hemojuvelin BMP co-receptor
OMIM: 608374, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red HJV in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, type 2A, MIM# 602390
Tags
  • new gene name

Green HJV in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, type 2A, MIM# 602390
Tags
  • new gene name

Green HJV in Monogenic Diabetes


Level 2: Endocrine disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hemochromatosis, type 2A, 602390
Tags
  • new gene name

Green HJV in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemochromatosis, type 2A, 602390 (3)
Tags
  • new gene name

Green HJV in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, type 2A, MIM# 602390
Tags
  • new gene name

Red HJV in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Haemochromatosis

Green HJV in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • HFE2A
  • 602390 HEMOCHROMATOSIS, TYPE 2A
  • 602390 Hemochromatosis, type 2A

Green HJV in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Haemochromatosis, type 2A, 602390 (3)

Red HJV in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Haemochromatosis

Green HJV in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Haemochromatosis, type 2A, MIM#602390

Green HJV in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, type 2A, MIM# 602390
Tags
  • new gene name