ALB

albumin
OMIM: 103600, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ALB in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial dysalbuminaemic hyperthyroxinaemia
  • [Dysalbuminemic hyperthyroxinemia], 615999
  • Analbuminemia, MIM# 616000

Green ALB in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Analbuminemia

Green ALB in Hyperthyroidism


Level 2: Endocrine disorders
Version 0.23

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Familial dysalbuminaemic hyperthyroxinaemia
  • [Dysalbuminemic hyperthyroxinemia], 615999

Green ALB in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Analbuminemia, MIM#616000

Red ALB in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Analbuminemia, MIM# 616000