SFTPC:Ensemblv90

surfactant protein C
OMIM: 178620, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green SFTPC in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.4

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913

Green SFTPC in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913

Green SFTPC 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
  • Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913

Green SFTPC in Additional findings_Paediatric


Level 2: Screening
Version 0.278

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620
  • Interstitial lung disease

Red SFTPC in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913

Green SFTPC in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913

Green SFTPC 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
  • Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913

Green SFTPC in Additional findings_Paediatric


Level 2: Screening
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620
  • Interstitial lung disease