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Fetal anomalies

Gene: NOG

Green List (high evidence)

NOG (noggin)
EnsemblGeneIds (GRCh38): ENSG00000183691
EnsemblGeneIds (GRCh37): ENSG00000183691
OMIM: 602991, Gene2Phenotype
NOG is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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 SYMPHALANGISM PROXIMAL SYNDROME, Confirmed for STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, Confirmed for MULTIPLE SYNOSTOSES SYNDROME TYPE 1, Confirmed for TARSAL-CARPAL COALITION SYNDROME, and Confirmed for BRACHYDACTYLY TYPE B2.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as LOF for SYMPHALANGISM PROXIMAL SYNDROME and MULTIPLE SYNOSTOSES SYNDROME TYPE 1, and listed as Uncertain for STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, TARSAL-CARPAL COALITION SYNDROME and BRACHYDACTYLY TYPE B2.
Created: 8 Nov 2018, 4:45 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRACHYDACTYLY TYPE B2
  • SYMPHALANGISM PROXIMAL SYNDROME
  • MULTIPLE SYNOSTOSES SYNDROME TYPE 1
  • TARSAL-CARPAL COALITION SYNDROME
  • STAPES ANKYLOSIS WITH BROAD THUMB AND TOES
OMIM
602991
Clinvar variants
Variants in NOG
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes BRACHYDACTYLY TYPE B2 for gene: NOG

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes TARSAL-CARPAL COALITION SYNDROME for gene: NOG

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MULTIPLE SYNOSTOSES SYNDROME TYPE 1 for gene: NOG

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes STAPES ANKYLOSIS WITH BROAD THUMB AND TOES for gene: NOG

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: NOG was added gene: NOG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOG were set to SYMPHALANGISM PROXIMAL SYNDROME