POLR3A

RNA polymerase III subunit A
OMIM: 614258, Gene2Phenotype

19 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 19 panels
Green POLR3A in COVID-19 research Level 2: Viral research Version 1.147	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources IUIS Classification December 2019 Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes RNA polymerase III deficiency Severe VZV infection Predisposition to severe viral infection Defects in intrinsic and innate immunity
Green POLR3A in White matter disorders and cerebral calcification - childhood onset Level 2: Neurology Version 8.7 Latest signed off version: v8.6 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
Green POLR3A in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.32 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Autosomal Recessive Ataxia
Red POLR3A in Pituitary hormone deficiency Level 2: Endocrinology Version 4.11 Latest signed off version: v4.10 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)
Green POLR3A in Leukodystrophy, adult onset Level 2: Neurology Version 7.9 Latest signed off version: v7.8 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694
Green POLR3A in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.345	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Autosomal Recessive Ataxia Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
Amber POLR3A in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 9.105 Latest signed off version: v9.91 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Severe VZV infection
Green POLR3A in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 607694 General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green POLR3A in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autosomal Recessive Ataxia Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
Green POLR3A in Hereditary spastic paraplegia, childhood onset Level 2: Neurology Version 9.11 Latest signed off version: v9.7 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Literature Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 Autosomal Recessive Ataxia
Green POLR3A in Hereditary spastic paraplegia, adult onset Level 2: Neurology Version 6.14 Latest signed off version: v6.13 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 Autosomal Recessive Ataxia
Red POLR3A in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.11 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Autosomal Recessive Ataxia
Green POLR3A in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090
Green POLR3A in DDG2P Version 8.2 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autosomal Recessive Wiedemann Rautenstrauch Syndrome LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694
Green POLR3A in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.513	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MONDO:0011897 peripheral neuropathy, MONDO:0005244
Green POLR3A in Intellectual disability Level 2: Developmental disorders Version 11.28 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropichypogonadism, 607694 LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
Green POLR3A in Hereditary ataxia, adult onset Level 2: Neurology Version 9.11 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694 Autosomal Recessive Ataxia
Green POLR3A in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.33 Latest signed off version: v8.30 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MONDO:0011897 peripheral neuropathy, MONDO:0005244 Tags Q3_26_NHS_review Q3_26_MOI
Green POLR3A in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 Wiedemann-Rautenstrauch syndrome, 264090

POLR3A

19 panels

Green POLR3A in COVID-19 research

Sources

Phenotypes

Green POLR3A in White matter disorders and cerebral calcification - childhood onset

Sources

Phenotypes

Green POLR3A in Ataxia and cerebellar anomalies - childhood onset

Sources

Phenotypes

Red POLR3A in Pituitary hormone deficiency

Sources

Phenotypes

Green POLR3A in Leukodystrophy, adult onset

Sources

Phenotypes

Green POLR3A in Hereditary ataxia

Sources

Phenotypes

Amber POLR3A in Primary immunodeficiency or monogenic inflammatory bowel disease

Sources

Phenotypes

Green POLR3A in Inherited white matter disorders

Sources

Phenotypes

Green POLR3A in Hereditary spastic paraplegia

Sources

Phenotypes

Green POLR3A in Hereditary spastic paraplegia, childhood onset

Sources

Phenotypes

Green POLR3A in Hereditary spastic paraplegia, adult onset

Sources

Phenotypes

Red POLR3A in Neurodegenerative disorders, adult onset

Sources

Phenotypes

Green POLR3A in Fetal anomalies

Sources

Phenotypes

Green POLR3A in DDG2P

Sources

Phenotypes

Green POLR3A in Hereditary neuropathy

Sources

Phenotypes

Green POLR3A in Intellectual disability

Sources

Phenotypes

Green POLR3A in Hereditary ataxia, adult onset

Sources

Phenotypes

Green POLR3A in Hereditary neuropathy or pain disorder

Sources

Phenotypes

Tags

Green POLR3A in Dystonia, chorea or related movement disorder, childhood onset

Sources

Phenotypes