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Prepair 1000+

Gene: ABCA3

Green List (high evidence)

ABCA3 (ATP binding cassette subfamily A member 3)
EnsemblGeneIds (GRCh38): ENSG00000167972
EnsemblGeneIds (GRCh37): ENSG00000167972
OMIM: 601615, Gene2Phenotype
ABCA3 is in 8 panels

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Over 15 unrelated families reported, well-established gene-disease association.
Severe perinatal disorder.
Created: 7 Aug 2024, 7:28 a.m. | Last Modified: 7 Aug 2024, 7:28 a.m.
Panel Version: 1.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 3, MIM#610921

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
OMIM
601615
Clinvar variants
Variants in ABCA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abca3 has been classified as Green List (High Evidence).

8 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCA3 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3) for gene: ABCA3

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCA3 was added gene: ABCA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)