ABCA3:Ensemblv90

ATP binding cassette subfamily A member 3
OMIM: 601615, ClinGen, DECIPHER

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green ABCA3 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.4

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921

Green ABCA3 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921

Green ABCA3 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 0.178

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921

Green ABCA3 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.111

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)

Green ABCA3 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3

Green ABCA3 in Prepair 1000+


Level 2: Screening
Version 2.15

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)

Red ABCA3 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921

Green ABCA3 in Prepair 500+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)

Green ABCA3 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921

Green ABCA3 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921

Green ABCA3 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)

Green ABCA3 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3

Green ABCA3 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)

Green ABCA3 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)