ACTN1

actinin alpha 1
OMIM: 102575, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ACTN1 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.62

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bleeding disorder, platelet-type, 15, MIM# 615193

Green ACTN1 in Mendeliome


Version 1.3512

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bleeding disorder, platelet-type, 15, MIM# 615193

Green ACTN1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Macrothrombocytopenia

Green ACTN1 in IBMDx study


Version 0.38

1 review Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • ACTN1 related thrombocytopenia

Red ACTN1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.140

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Bleeding disorder, platelet-type, 15, MIM# 615193

Green ACTN1 in Transplant Co-Morbidity


Level 2: Screening
Version 0.20

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bleeding disorder, platelet-type, 15, MIM# 615193