MVK

mevalonate kinase
OMIM: 251170, Gene2Phenotype

23 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 23 panels
Green MVK in Familial disseminated superficial actinic porokeratosis Level 3: Keratodermas Level 2: Dermatological disorders Version 1.4	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other UKGTN Radboud University Medical Center, Nijmegen Phenotypes Porokeratosis 3, multiple types, OMIM:175900
Green MVK in Periodic fever syndromes Level 3: Multi-system inflammatory/autoimmune disorders Level 2: Rheumatological disorders Version 1.34	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Emory Genetics Laboratory Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377
Green MVK in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Expert list Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377
Green MVK in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377
Green MVK in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mevalonic aciduria, OMIM:610377
No list MVK in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Mevalonic aciduria, OMIM:610377
Green MVK in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377 Autoinflammatory Disorders Periodic fever and leukocytosis with high IgD levels
Green MVK in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mevalonic aciduria, OMIM:610377
Green MVK in Cholestasis Level 2: Gastrohepatology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mevalonic aciduria, OMIM:610377
Red MVK in Palmoplantar keratodermas Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes Porokeratosis 3, multiple types, OMIM:175900
Amber MVK in Rare genetic inflammatory skin disorders Level 2: Dermatology Version 4.16 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Porokeratosis 3, multiple types, OMIM:175900 porokeratosis 3, disseminated superficial actinic type, MONDO:0008293 Tags Q4_25_promote_green
Amber MVK in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mevalonic aciduria, OMIM:610377
Green MVK in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377 Periodic fever and leukocytosis with high IgD levels Autoinflammatory Disorders
Amber MVK in Mosaic skin disorders - deep sequencing Level 2: Dermatology Version 3.27 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Porokeratosis 3, multiple types, OMIM:175900 porokeratosis 3, disseminated superficial actinic type, MONDO:0008293 Tags Q4_25_promote_green
Red MVK in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH Expert Review Red London North GLH NHS GMS South West GLH Phenotypes Mevalonic aciduria, OMIM:610377
Green MVK in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377 Porokeratosis 3, multiple types, OMIM:175900
Green MVK in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377 Porokeratosis 3, multiple types, OMIM:175900
Amber MVK in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377
Green MVK in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mevalonic aciduria, OMIM:610377
Red MVK in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 Phenotypes Mevalonic aciduria, OMIM:610377
Green MVK in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377 retinitis pigmentosa, MONDO:0019200
Red MVK in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green MVK in Autoinflammatory disorders Level 2: Immunology Version 2.35 Latest signed off version: v2.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mevalonic aciduria, OMIM:610377 Hyper-IgD syndrome, OMIM:260920

MVK

23 panels

Green MVK in Familial disseminated superficial actinic porokeratosis

Sources

Phenotypes

Green MVK in Periodic fever syndromes

Sources

Phenotypes

Green MVK in Infantile enterocolitis & monogenic inflammatory bowel disease

Sources

Phenotypes

Green MVK in Gastrointestinal epithelial barrier disorders

Sources

Phenotypes

Green MVK in Neonatal cholestasis

Sources

Phenotypes

No list MVK in Fetal hydrops

Sources

Phenotypes

Green MVK in COVID-19 research

Sources

Phenotypes

Green MVK in Ataxia and cerebellar anomalies - narrow panel

Sources

Phenotypes

Green MVK in Cholestasis

Sources

Phenotypes

Red MVK in Palmoplantar keratodermas

Sources

Phenotypes

Amber MVK in Rare genetic inflammatory skin disorders

Sources

Phenotypes

Tags

Amber MVK in Hereditary ataxia

Sources

Phenotypes

Green MVK in Primary immunodeficiency or monogenic inflammatory bowel disease

Sources

Phenotypes

Amber MVK in Mosaic skin disorders - deep sequencing

Sources

Phenotypes

Tags

Red MVK in Adult onset neurodegenerative disorder

Sources

Phenotypes

Green MVK in Undiagnosed metabolic disorders

Sources

Phenotypes

Green MVK in Likely inborn error of metabolism

Sources

Phenotypes

Amber MVK in Fetal anomalies

Sources

Phenotypes

Green MVK in Intellectual disability

Sources

Phenotypes

Red MVK in Hereditary ataxia with onset in adulthood

Sources

Phenotypes

Green MVK in Retinal disorders

Sources

Phenotypes

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

Sources

Green MVK in Autoinflammatory disorders

Sources

Phenotypes