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Intellectual disability syndromic and non-syndromic

Gene: GTF2I

Red List (low evidence)

GTF2I (general transcription factor IIi)
EnsemblGeneIds (GRCh38): ENSG00000263001
EnsemblGeneIds (GRCh37): ENSG00000077809
OMIM: 601679, Gene2Phenotype
GTF2I is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Gene is in Williams syndrome recurrent deletion but no evidence of Mendelian gene-disease association.
Created: 4 Dec 2019, 7:48 p.m. | Last Modified: 4 Dec 2019, 7:48 p.m.
Panel Version: 0.329

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Genetic Health Queensland
OMIM
601679
Clinvar variants
Variants in GTF2I
Penetrance
None
Panels with this gene

History Filter Activity

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gtf2i has been classified as Red List (Low Evidence).

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gtf2i 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: GTF2I was added gene: GTF2I was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTF2I was set to Unknown