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  2. Growth failure
  3. SPRTN
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Growth failure

Gene: SPRTN

Green List (high 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)

Green List (high evidence)

Two families with functional evidence for a DNA repair disorder; progeroid features and hepatocellular carcinoma reported as key features, as is short stature.
Sources: Expert Review
Created: 20 Aug 2021, 7:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527

Publications

Created: 20 Aug 2021, 7:42 a.m.

Panel version: 0.287

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
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

20 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Aug 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPRTN was added gene: SPRTN was added to Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRTN were set to 25261934 Phenotypes for gene: SPRTN were set to Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527 Review for gene: SPRTN was set to GREEN