Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: SPRTN

Red List (low 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)

Red List (low evidence)

Two families and functional evidence but ID is not part of the phenotype.
Created: 29 Feb 2020, 12:03 a.m. | Last Modified: 29 Feb 2020, 12:03 a.m.
Panel Version: 0.2252

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ruijs-Aalfs syndrome, MIM# 616200

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Ruijs-Aalfs syndrome, MIM# 616200
OMIM
616086
Clinvar variants
Variants in SPRTN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sprtn has been classified as Red List (Low Evidence).

29 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SPRTN were set to

29 Feb 2020, Gel status: 1

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

29 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sprtn has been classified as Red List (Low Evidence).

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPRTN was set to Unknown