NOG

noggin
OMIM: 602991, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber NOG in Primary ovarian insufficiency Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.71	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency
Red NOG in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.35	review	Not set	Sources Emory Genetics Laboratory
Green NOG in Limb disorders Level 2: Musculoskeletal Version 7.17 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Radboud University Medical Center, Nijmegen UKGTN Expert Review Green London South East RGC GSTT Viapath Phenotypes Brachydactyly, type B2 611377 Multiple synostoses syndrome 1 186500 Stapes ankylosis with broad thumb and toes 184460 Symphalangism, proximal, 1A 185800 Tarsal-carpal coalition syndrome 186570
Green NOG in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Symphalangism, proximal, 1A 185800 Brachydactyly, type B2 611377 Tarsal-carpal coalition syndrome 186570 Stapes ankylosis with broad thumb and toes 184460 Multiple synostoses syndrome 1 186500
Green NOG in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	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
Red NOG in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Phenotypes Tarsal-carpal coalition syndrome Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome) Brachydactyly type B2 Multiple synostosis syndrome Symphalangism, proximal
Green NOG in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TARSAL-CARPAL COALITION SYNDROME 186570 MULTIPLE SYNOSTOSES SYNDROME TYPE 1 186500 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES 184460 BRACHYDACTYLY TYPE B2 611377 SYMPHALANGISM PROXIMAL SYNDROME 185800
Red NOG in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene 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