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Mendeliome

Gene: SMAD7

Red List (low evidence)

SMAD7 (SMAD family member 7)
EnsemblGeneIds (GRCh38): ENSG00000101665
EnsemblGeneIds (GRCh37): ENSG00000101665
OMIM: 602932, Gene2Phenotype
SMAD7 is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

No evidence for Mendelian gene-disease association.
Created: 20 Mar 2022, 2:30 a.m. | Last Modified: 20 Mar 2022, 2:30 a.m.
Panel Version: 0.11636

Phenotypes
{Colorectal cancer, susceptibility to, 3} 612229

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Colorectal cancer, susceptibility to, 3} 612229
OMIM
602932
Clinvar variants
Variants in SMAD7
Penetrance
None
Panels with this gene

History Filter Activity

20 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smad7 has been classified as Red List (Low Evidence).

20 Mar 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMAD7 were changed from to {Colorectal cancer, susceptibility to, 3} 612229

20 Mar 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SMAD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smad7 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMAD7 was added gene: SMAD7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SMAD7 was set to Unknown