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  3. C1QTNF5
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Retinitis pigmentosa_Autosomal Dominant

Gene: C1QTNF5

Green List (high evidence)
C1QTNF5 (C1q and TNF related 5)
EnsemblGeneIds (GRCh38): ENSG00000223953
EnsemblGeneIds (GRCh37): ENSG00000223953
OMIM: 608752, Gene2Phenotype
C1QTNF5 is in 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

well established association.
p.(Ser163Arg) and p.(Pro188Thr) have been suggested as a founder variants
Functional studies demonstrated a dominant-negative effect.
Created: 15 Mar 2022, 2:06 a.m. | Last Modified: 15 Mar 2022, 2:06 a.m.
Panel Version: 0.34

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinal degeneration, late-onset, autosomal dominant MIM#605670

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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

Created: 15 Mar 2022, 2:06 a.m.
Last Modified: 15 Mar 2022, 2:06 a.m.
Panel version: 0.34

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinal degeneration, late-onset, autosomal dominant MIM#605670
OMIM
608752
Clinvar variants
Variants in C1QTNF5
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

15 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: c1qtnf5 has been classified as Green List (High Evidence).

15 Mar 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: C1QTNF5 were changed from Retinitis pigmentosa; Retinal degeneration, late-onset, autosomal dominant, 605670 to Retinal degeneration, late-onset, autosomal dominant MIM#605670

15 Mar 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: C1QTNF5 were set to

15 Mar 2022, Gel status: 3

Set mode of pathogenicity

Ain Roesley (Victorian Clinical Genetics Services)

Mode of pathogenicity for gene: C1QTNF5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: C1QTNF5 was added gene: C1QTNF5 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: C1QTNF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: C1QTNF5 were set to Retinitis pigmentosa; Retinal degeneration, late-onset, autosomal dominant, 605670