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  3. SFTPC
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Familial pulmonary fibrosis

Gene: SFTPC

Green List (high evidence)
SFTPC (surfactant protein C)
EnsemblGeneIds (GRCh38): ENSG00000168484
EnsemblGeneIds (GRCh37): ENSG00000168484
OMIM: 178620, Gene2Phenotype
SFTPC is in 3 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotype suggested by expert reviewer
Created: 27 Apr 2017, 3:43 p.m.
Created: 27 Apr 2017, 3:43 p.m.

Panel version: 0.132

Philip Molyneaux (Imperial College)

Green List (high evidence)

Well established variant associated with ILD, also associated with Alveolar proteinosis
Created: 26 Apr 2017, 9:36 a.m.
Created: 26 Apr 2017, 9:28 a.m.

Panel version: 0.110

Alice Gardham (Genomics England)

Green List (high evidence)

Offered by UKGTN
Created: 8 Feb 2017, 1:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 2 610913

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Feb 2017, 1:57 p.m.

Panel version: 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2, 610913
  • Interstitial Lung Disease
  • Pulmonary alveolar proteinosis
OMIM
178620
Clinvar variants
Variants in SFTPC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017

27 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SFTPC were set to Surfactant metabolism dysfunction, pulmonary, 2, 610913; Interstitial Lung Disease; Pulmonary alveolar proteinosis

27 Apr 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for SFTPC was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

8 Feb 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for SFTPC were set to Surfactant metabolism dysfunction, pulmonary, 2 610913

8 Feb 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for SFTPC were set to 20301408; 11207353

29 Oct 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SFTPC was added to Familial pulmonary fibrosispanel. Source: Radboud University Medical Center, Nijmegen

29 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SFTPC was added to Familial pulmonary fibrosispanel. Source: UKGTN

29 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SFTPC was added to Familial pulmonary fibrosispanel. Source: Emory Genetics Laboratory

29 Oct 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

SFTPC was added to Familial pulmonary fibrosispanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

29 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SFTPC was added to Familial pulmonary fibrosispanel. Sources: Eligibility statement prior genetic testing

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SFTPC was created by ellenmcdonagh