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Intellectual disability

Gene: NOG

Amber List (moderate evidence)

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

4 reviews

Arina Puzriakova (Genomics England Curator)

Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark
Created: 17 Aug 2020, 10:09 a.m. | Last Modified: 17 Aug 2020, 10:09 a.m.
Panel Version: 3.253

Zornitza Stark (Australian Genomics)

Red List (low evidence)

ID is not part of the phenotype.
Created: 5 Mar 2020, 11:36 p.m. | Last Modified: 5 Mar 2020, 11:36 p.m.
Panel Version: 3.3

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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known . Main mutation mechanism : Loss of function; Uncertain
Created: 27 Jul 2017, 7:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 2:42 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Symphalangism, proximal, 185800
  • Multiple synostoses syndrome 1, 186500
  • Tarsal-carpal coalition syndrome, 186570
  • Stapes ankylosis with broad thumb and toes, 184460
  • Brachydactyly, type B2, 611377
OMIM
602991
Clinvar variants
Variants in NOG
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

NOG was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

NOG was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene