ABCA3

ATP binding cassette subfamily A member 3
OMIM: 601615, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green ABCA3 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Surfactant metabolism dysfunction, pulmonary, 3, 610921 Tags non-coding-known-pathogenic
Red ABCA3 in Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.13	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red GDL Corneal Abnormalities panel Phenotypes Cataract-microcornea syndrome
Green ABCA3 in Surfactant deficiency Version 1.11 Latest signed off version: v1.2 (2 Mar 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Surfactant metabolism dysfunction, pulmonary 3, OMIM:610921
Green ABCA3 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Surfactant metabolism dysfunction, pulmonary, 3, 610921
Green ABCA3 in Pulmonary fibrosis familial Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.7 Latest signed off version: v1.3 (30 Nov 2022)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921