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Fetal anomalies

Gene: ROGDI

Green List (high evidence)

ROGDI (rogdi homolog)
EnsemblGeneIds (GRCh38): ENSG00000067836
EnsemblGeneIds (GRCh37): ENSG00000067836
OMIM: 614574, Gene2Phenotype
ROGDI is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: May include structural features. Therefore promote from Red to Green.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 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: Phenotype is not fetally-relevant. Action taken: Demoted ROGDI gene rating from Green to Red.
Created: 30 Apr 2019, 8:24 a.m.
DDG2P rating in original PAGE list: Confirmed for KOHLSCHŸTTER-TšNZ SYNDROME
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • KOHLSCHAYTTER-TANZ SYNDROME
OMIM
614574
Clinvar variants
Variants in ROGDI
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

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

30 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

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

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ROGDI was added gene: ROGDI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ROGDI were set to KOHLSCHAYTTER-TANZ SYNDROME