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Intellectual disability syndromic and non-syndromic

Gene: SPEG

Red List (low evidence)

SPEG (SPEG complex locus)
EnsemblGeneIds (GRCh38): ENSG00000072195
EnsemblGeneIds (GRCh37): ENSG00000072195
OMIM: 615950, Gene2Phenotype
SPEG is in 9 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Delayed milestones as muscle disease, not primary DD/ID gene
Created: 10 Dec 2019, 10:10 p.m. | Last Modified: 10 Dec 2019, 10:10 p.m.
Panel Version: 0.1205

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 5; OMIM #615959

Details

History Filter Activity

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

10 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from SPEG. Source Expert list was added to SPEG. Mode of inheritance for gene SPEG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPEG were changed from to Centronuclear myopathy 5; OMIM #615959

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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