NOG

Amber NOG in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.67

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 1.34

Sources

• Emory Genetics Laboratory

Green NOG in Limb disorders

Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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

Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

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 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0 (22 Mar 2023)

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 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

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 - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

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

Green NOG in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

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