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  3. TRPM3
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Dystonia - complex

Gene: TRPM3

Green List (high evidence)
TRPM3 (transient receptor potential cation channel subfamily M member 3)
EnsemblGeneIds (GRCh38): ENSG00000083067
EnsemblGeneIds (GRCh37): ENSG00000083067
OMIM: 608961, Gene2Phenotype
TRPM3 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224

Created: 9 Mar 2023, 7:04 a.m.
Last Modified: 9 Mar 2023, 7:04 a.m.
Panel version: 0.220

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 9 Mar 2023, 6:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; epilepsy; chorea; athetosis; hypotonia; dysmorphic features

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Mar 2023, 6:55 a.m.

Panel version: 0.220

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224
OMIM
608961
Clinvar variants
Variants in TRPM3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpm3 has been classified as Green List (High Evidence).

9 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRPM3 were changed from Intellectual disability; epilepsy; chorea; athetosis; hypotonia; dysmorphic features to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224

9 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpm3 has been classified as Green List (High Evidence).

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: TRPM3 was added gene: TRPM3 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM3 were set to 31278393; 35146895 Phenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy; chorea; athetosis; hypotonia; dysmorphic features Penetrance for gene: TRPM3 were set to Complete Review for gene: TRPM3 was set to GREEN gene: TRPM3 was marked as current diagnostic