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  2. Holoprosencephaly and septo-optic dysplasia
  3. TDGF1
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Holoprosencephaly and septo-optic dysplasia

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported in PMID 12073012. However, note variant reported, p.Pro125Leu is present in 46 hets in gnomad.
Created: 24 Aug 2020, 10:21 a.m. | Last Modified: 24 Aug 2020, 10:21 a.m.
Panel Version: 0.39

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Forebrain abnormalities

Publications

Created: 24 Aug 2020, 10:21 a.m.
Last Modified: 24 Aug 2020, 10:21 a.m.
Panel version: 0.39

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Forebrain abnormalities
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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TDGF1 were changed from to Forebrain abnormalities

24 Aug 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TDGF1 were set to

24 Aug 2020, 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

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: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: TDGF1.

17 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 Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TDGF1 was set to Unknown