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Mendeliome

Gene: GATAD1

Red List (low evidence)

GATAD1 (GATA zinc finger domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000157259
EnsemblGeneIds (GRCh37): ENSG00000157259
OMIM: 614518, Gene2Phenotype
GATAD1 is in 3 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

In 3 affected sibs from a consanguineous family of Norwegian ancestry segregating autosomal recessive dilated cardiomyopathy mapping to chromosome 7q21 (CMD2B; 614672), Theis et al. (2011) identified homozygosity for a missense variant (S102P) in the GATAD1 gene. The 6 unaffected sibs were either heterozygous or homozygous for the wildtype GATAD1 allele. Immunohistochemical analysis of cardiac biopsy tissue from the proband revealed a marked disturbance in extranuclear distribution of GATAD1 compared to controls. In addition, myocyte nuclei in the proband had a unique globular morphology, contrasting with the elongated spindle shape observed in controls. Screening of GATAD1 in an additional 273 probands with CMD did not reveal any mutations.
Created: 19 May 2022, 5:11 a.m. | Last Modified: 19 May 2022, 5:11 a.m.
Panel Version: 0.14579

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Cardiomyopathy, dilated, 2B, OMIM # 614672

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Cardiomyopathy, dilated, 2B MIM#614672
OMIM
614518
Clinvar variants
Variants in GATAD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2022, Gel status: 1

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: GATAD1 were changed from to ?Cardiomyopathy, dilated, 2B MIM#614672

20 May 2022, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: gatad1 has been classified as Red List (Low Evidence).

20 May 2022, Gel status: 1

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: GATAD1 were set to

20 May 2022, Gel status: 1

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: GATAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

19 May 2022, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: gatad1 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: GATAD1 was added gene: GATAD1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GATAD1 was set to Unknown