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Paediatric disorders - additional genes

Gene: GDF1

Green List (high evidence)
GDF1 (growth differentiation factor 1)
EnsemblGeneIds (GRCh38): ENSG00000130283
EnsemblGeneIds (GRCh37): ENSG00000130283
OMIM: 602880, Gene2Phenotype
GDF1 is in 10 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Updated MOI from MONOALLELIC to BOTH monoallelic and biallelic, to match suggested MOI in review, and MOI on 'Laterality disorders and isomerism' panel, version 1.0 (panel 549). GDF1 has AD inheritance for Congenital heart defects, multiple types, 6 (MIM:613854) and AR inheritance for Right atrial isomerism (Ivemark) (MIM:208530).
Created: 12 Dec 2019, 11:13 a.m. | Last Modified: 12 Dec 2019, 11:13 a.m.
Panel Version: 0.45
Created: 12 Dec 2019, 11:13 a.m.
Last Modified: 12 Dec 2019, 11:13 a.m.
Panel version: 0.45

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Promoted from Red to Green. This gene is Green on the Familial non syndromic congenital heart disease (panel 212, Version 1.49).
Created: 26 Nov 2019, 2:46 p.m. | Last Modified: 26 Nov 2019, 2:46 p.m.
Panel Version: 0.40
Comment on list classification: Promoted from Red to Green. This gene is Green on the Familial non syndromic congenital heart disease (panel 212, Version 1.49).
Created: 26 Nov 2019, 2:46 p.m. | Last Modified: 26 Nov 2019, 2:46 p.m.
Panel Version: 0.40
This gene was submitted by Rebecca Whittington on behalf of the South West GLH, for inclusion on the Paediatric disorders panel (https://panelapp.genomicsengland.co.uk/panels/486/)
Created: 26 Nov 2019, 2:38 p.m. | Last Modified: 26 Nov 2019, 2:38 p.m.
Panel Version: 0.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital heart defects, multiple types, 6; Right atrial isomerism (Ivemark)

Created: 26 Nov 2019, 2:38 p.m.
Last Modified: 26 Nov 2019, 2:38 p.m.
Panel version: 0.35

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Congenital heart defects, multiple types, 6, OMIM:613854
  • Right atrial isomerism (Ivemark), OMIM:208530
OMIM
602880
Clinvar variants
Variants in GDF1
Penetrance
None
Panels with this gene

History Filter Activity

31 Oct 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GDF1 were changed from Right atrial isomerism (Ivemark), 208530; Congenital heart defects, multiple types, 6, 613854 to Congenital heart defects, multiple types, 6, OMIM:613854; Right atrial isomerism (Ivemark), OMIM:208530

12 Dec 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: GDF1 were changed from Right atrial isomerism (Ivemark); Congenital heart defects, multiple types, 6 to Right atrial isomerism (Ivemark), 208530; Congenital heart defects, multiple types, 6, 613854

12 Dec 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: GDF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

26 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: GDF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

26 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: gdf1 has been classified as Green List (High Evidence).

26 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: gdf1 has been classified as Green List (High Evidence).

26 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GDF1 was added gene: GDF1 was added to Paediatric disorders - additional genes. Sources: South West GLH Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GDF1 were set to Right atrial isomerism (Ivemark); Congenital heart defects, multiple types, 6