MFSD8

Red MFSD8 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.13

Sources

• Emory Genetics Laboratory

Red MFSD8 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.42

Sources

• NHS GMS
• Emory Genetics Laboratory

Phenotypes

• Eye Disorders

Green MFSD8 in Lysosomal storage disorder

Version 1.78
Latest signed off version: v1.2 (18 Feb 2020)

Sources

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

Phenotypes

• Ceroid lipofuscinosis, neuronal, 7 OMIM:610951
• neuronal ceroid lipofuscinosis 7 MONDO:0012588

Green MFSD8 in Neuronal ceroid lipofuscinosis

Version 1.23
Latest signed off version: v1.3 (15 Oct 2020)

Sources

• NHS GMS
• London North GLH
• Expert Review Green

Phenotypes

• Ceroid lipofuscinosis, neuronal, 7 OMIM:610951
• neuronal ceroid lipofuscinosis 7 MONDO:0012588

Green MFSD8 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

Sources

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

Phenotypes

• Ceroid lipofuscinosis, neuronal, 7 610951
• Macular dystrophy with central cone involvement 616170

Green MFSD8 in Inborn errors of metabolism

Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Ceroid lipofuscinosis, neuronal, 7 61095

Red MFSD8 in Fetal anomalies

Version 1.900
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• Expert Review Red
• PAGE DD-Gene2Phenotype

Phenotypes

• MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS

Green MFSD8 in DDG2P

Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS 610951

Green MFSD8 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.563
Latest signed off version: v2.2 (13 Feb 2020)

Sources

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

Phenotypes

• Ceroid lipofuscinosis, neuronal, 7 610951

Green MFSD8 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1659
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Green

Phenotypes

• MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS

Green MFSD8 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.285
Latest signed off version: v2.195 (5 Aug 2021)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Ceroid lipofuscinosis, neuronal, 7, 610951
• Macular dystrophy with central cone involvement, 616170
• Eye Disorders

Red MFSD8 in Structural eye disease

Version 1.132
Latest signed off version: v1.3 (4 Mar 2020)

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 616170
• CEROID LIPOFUSCINOSIS, NEURONAL, 7, 610951
• Eye Disorders

Red MFSD8 in Childhood onset dystonia or chorea or related movement disorder

Version 1.241
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• Expert Review Red
• London North GLH

Green MFSD8 in Severe Paediatric Disorders

Version 1.127

Sources

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

Phenotypes

• Ceroid lipofuscinosis, neuronal, 7, 610951
• Macular dystrophy with central cone involvement, 616170