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Intellectual disability syndromic and non-syndromic

Gene: SPART

Green List (high evidence)

SPART (spartin)
EnsemblGeneIds (GRCh38): ENSG00000133104
EnsemblGeneIds (GRCh37): ENSG00000133104
OMIM: 607111, Gene2Phenotype
SPART is in 8 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Numerous families reported, with ID as part of phenotype.
Created: 10 Dec 2019, 10:14 p.m. | Last Modified: 10 Dec 2019, 10:15 p.m.
Panel Version: 0.1207

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Troyer syndrome; OMIM # 275900

Publications

Details

History Filter Activity

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from SPART. Source Expert list was added to SPART. Mode of inheritance for gene SPART was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPART were changed from to Troyer syndrome; OMIM #275900 Publications for gene SPART were changed from PMID: 26003402; 28679690; 27112432; 20437587; 12134148; 18413476; 31314595; 28875386 to PMID: 26003402; 28679690; 27112432; 20437587; 12134148; 18413476; 31314595; 28875386

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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