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  2. Lipodystrophy_Lipoatrophy
  3. SPRTN
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Lipodystrophy_Lipoatrophy

Gene: SPRTN

Amber List (moderate evidence)
SPRTN (SprT-like N-terminal domain)
EnsemblGeneIds (GRCh38): ENSG00000010072
EnsemblGeneIds (GRCh37): ENSG00000010072
OMIM: 616086, Gene2Phenotype
SPRTN is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families with functional evidence for a DNA repair disorder, but lipodystrophy only noted in one individual.
Created: 27 Apr 2021, 11:21 p.m. | Last Modified: 27 Apr 2021, 11:21 p.m.
Panel Version: 0.83

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ruijs-Aalfs syndrome, MIM# 616200

Publications

Created: 27 Apr 2021, 11:21 p.m.
Last Modified: 27 Apr 2021, 11:21 p.m.
Panel version: 0.83

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Ruijs-Aalfs syndrome, MIM# 616200
  • MONDO:0014527
OMIM
616086
Clinvar variants
Variants in SPRTN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sprtn has been classified as Amber List (Moderate Evidence).

27 Apr 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SPRTN were set to

27 Apr 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SPRTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPRTN were changed from to Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527

27 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sprtn has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPRTN was added gene: SPRTN was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SPRTN was set to Unknown