Laterality disorders and isomerism
Gene: GDF1
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
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 givenCreated: 5 Dec 2018, 12:52 p.m.
Phenotypes for gene: GDF1 were changed from Right atrial isomerism, 208530 to Congenital heart defects, multiple types, 6, OMIM:613854; Right atrial isomerism (Ivemark), OMIM:208530
Mode of inheritance for gene: GDF1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GDF1 were changed from to Right atrial isomerism, 208530
Publications for gene: GDF1 were set to
Source Expert Review Green was added to GDF1. Rating Changed from Red List (low evidence) to Green List (high evidence)
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