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Fetal anomalies

Gene: ADGRG6

Green List (high evidence)

ADGRG6 (adhesion G protein-coupled receptor G6)
EnsemblGeneIds (GRCh38): ENSG00000112414
EnsemblGeneIds (GRCh37): ENSG00000112414
OMIM: 612243, Gene2Phenotype
ADGRG6 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PMID:30266093: AR/homozygous het variant identified in ADGRG6 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).
Created: 18 Apr 2019, 3:55 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for LETHAL CONGENITAL CONTRACTURE SYNDROME 9
Created: 11 Dec 2018, 9:04 a.m.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LETHAL CONGENITAL CONTRACTURE SYNDROME 9
OMIM
612243
Clinvar variants
Variants in ADGRG6
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ADGRG6 was added gene: ADGRG6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRG6 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 9