GNPTG

Green GNPTG in Mucopolysaccharideosis, Gaucher, Fabry

Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders
Version 1.2

Sources

• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Mucolipidosis, Type III Gamma
• Mucolipidosis III gamma
• mucolipidpsis type III complementation group C

Green GNPTG in Lysosomal storage disorder

Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Wessex and West Midlands GLH
• Expert Review Green
• North London GLH

Phenotypes

• Mucolipidosis III gamma OMIM:252605
• mucolipidosis type III gamma MONDO:0009652

Green GNPTG 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
• Expert list
• Emory Genetics Laboratory
• UKGTN
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Mucolipidosis III gamma 252605

Green GNPTG in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

Sources

• Expert Review Green
• Literature

Phenotypes

• Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders)
• Mucolipidosis, Type III Gamma
• Mucolipidosis III gamma
• mucolipidpsis type III complementation group C

Green GNPTG in Likely inborn error of metabolism - targeted testing not possible

Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders)
• mucolipidpsis type III complementation group C
• Mucolipidosis, Type III Gamma
• Mucolipidosis III gamma

Green GNPTG in Fetal anomalies

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

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C

Green GNPTG 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

• MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C 252605

Green GNPTG 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

• Victorian Clinical Genetics Services
• Expert Review Green

Phenotypes

• MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C (MLIIIC)

Green GNPTG in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Genetic Retinal Degeneration Conditions
• Mucolipidosis III gamma

Red GNPTG in Structural eye disease

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS

Phenotypes

• Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605

Red GNPTG in Childhood onset dystonia, chorea or related movement disorder

Version 3.75
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Green GNPTG in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Mucolipidosis III gamma, 252605