Fetal anomalies
Gene: NOG

NOG (noggin)
EnsemblGeneIds (GRCh38): ENSG00000183691
EnsemblGeneIds (GRCh37): ENSG00000183691
OMIM: 602991, Gene2Phenotype
NOG is in 7 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

I don't know

Multiple synostoses syndrome 1.
PMID: 11846737. Monoallelic NOG variants identified in two patients with proximal symphalangism and a patient with multiple synostoses syndrome. Involves ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, brachydactyly and conductive deafness.

Stapes ankylosis with broad thumbs and toes.
PMID: 18440889. Monoallelic NOG variants identified in proband presenting with congenital conductive hearing loss due to stapes ankylosis and incus short process fixation with skeletal anomalies including symphalangism, broad thumbs and broad first toes, syndactyly, brachydactyly, contractures of the elbows and knees, hyperopia and lens opacities.
PMID: 12089654. Congenital stapes ankylosis syndrome that included hyperopia, a hemicylindrical nose, broad thumbs and great toes, and other minor skeletal anomalies but lacked symphalangism.

Symphalangism, proximal, 1A
PMID: 10080184. Monoallelic NOG variants identified in five unrelated families with proximal symphalangism and one proband with multiple synostoses syndrome.

Red for Primary Ovarian Insufficiency_Premature Ovarian Failure. Premature ovarian failure is not a prominent or common feature of proximal symphalangism. Only 2 cases have been reported with POI. 15066478; 22088931; 17381491
Created: 12 Dec 2021, 11:45 p.m. | Last Modified: 12 Dec 2021, 11:45 p.m.

Panel Version: 0.1240

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brachydactyly, type B2 (MIM#611377); Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570)

Publications

Created: 12 Dec 2021, 11:45 p.m.
Last Modified: 12 Dec 2021, 11:45 p.m.
Panel version: 0.1240

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Genomics England PanelApp

Phenotypes

Brachydactyly, type B2 (MIM#611377)
Multiple synostoses syndrome 1 (MIM#186500)
Stapes ankylosis with broad thumbs and toes (MIM#184460)
Symphalangism, proximal, 1A (MIM#185800)
Tarsal-carpal coalition syndrome (MIM#186570)

OMIM

602991

Clinvar variants

Variants in NOG

Penetrance

None

Publications

Panels with this gene