SFTPA2:Ensemblv90

surfactant protein A2
OMIM: 178642, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SFTPA2 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary fibrosis, idiopathic, MIM# 178500

Green SFTPA2 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 0.178

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary fibrosis, idiopathic, MIM# 178500

Red SFTPA2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Pulmonary fibrosis, idiopathic

Red SFTPA2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pulmonary fibrosis, idiopathic

Green SFTPA2 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Pulmonary fibrosis, idiopathic, MIM# 178500