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Fetal anomalies

Gene: NOG

Amber List (moderate evidence)

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

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

History Filter Activity

13 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nog has been classified as Amber List (Moderate Evidence).

13 Dec 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NOG were changed from SYMPHALANGISM PROXIMAL SYNDROME; TARSAL-CARPAL COALITION SYNDROME; MULTIPLE SYNOSTOSES SYNDROME TYPE 1; BRACHYDACTYLY TYPE B2; STAPES ANKYLOSIS WITH BROAD THUMB AND TOES to 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)

13 Dec 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NOG were set to

13 Dec 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NOG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nog has been classified as Amber List (Moderate Evidence).

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NOG was added gene: NOG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp 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; TARSAL-CARPAL COALITION SYNDROME; MULTIPLE SYNOSTOSES SYNDROME TYPE 1; BRACHYDACTYLY TYPE B2; STAPES ANKYLOSIS WITH BROAD THUMB AND TOES