Laterality disorders and isomerism

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

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

Not currently on CGGL Royal Brompton panel. Good but limited evidence in literature for right atrial isomerism with some segregation data (rare cause)
Created: 25 Nov 2019, 10:55 p.m. | Last Modified: 25 Nov 2019, 10:55 p.m.
Panel Version: 0.51

Phenotypes
OMIM 208530 Right atrial isomerism

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: GDF1; Suggested initial gene rating: Green; Evidence for inclusion: OMIM Right atrial isomerism (Ivemark); Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Right atrial isomerism, 208530
OMIM
602880
Clinvar variants
Variants in GDF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

27 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GDF1 were changed from to Right atrial isomerism, 208530

27 Nov 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GDF1 were set to

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to GDF1. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GDF1 was added gene: GDF1 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: GDF1 was set to