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Intellectual disability syndromic and non-syndromic

Gene: TDGF1

Red List (low evidence)

TDGF1 (teratocarcinoma-derived growth factor 1)
EnsemblGeneIds (GRCh38): ENSG00000241186
EnsemblGeneIds (GRCh37): ENSG00000241186
OMIM: 187395, Gene2Phenotype
TDGF1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Variant reported is present in 46 hets in gnomad.
Created: 24 Aug 2020, 10:25 a.m. | Last Modified: 24 Aug 2020, 10:25 a.m.
Panel Version: 0.2870

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

No OMIM number listed.

1 patient with TDGF1 mutation with midline anomalies of the forebrain. The mutant protein is inactive in a zebrafish rescue assay, indicating a role for TDGF1 in human midline and forebrain development.
Created: 10 Dec 2019, 5:52 a.m. | Last Modified: 10 Dec 2019, 5:52 a.m.
Panel Version: 0.1147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Tags
disputed
OMIM
187395
Clinvar variants
Variants in TDGF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tdgf1 has been classified as Red List (Low Evidence).

24 Aug 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: TDGF1.

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tdgf1 has been classified as Red List (Low Evidence).

11 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TDGF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tdgf1 has been classified as Red List (Low Evidence).

10 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set publications

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from TDGF1. Source Expert list was added to TDGF1. Publications for gene TDGF1 were changed from PMID: 12073012 to PMID: 12073012

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TDGF1 was added gene: TDGF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TDGF1 was set to Unknown