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Intellectual disability syndromic and non-syndromic

Gene: MYO5A

Green List (high evidence)

MYO5A (myosin VA)
EnsemblGeneIds (GRCh38): ENSG00000197535
EnsemblGeneIds (GRCh37): ENSG00000197535
OMIM: 160777, Gene2Phenotype
MYO5A is in 6 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Griscelli syndrome (GS) is characterized by partial albinism, neurologic abnormalities and/or immune defects. It can be categorised into 3 types; type 1: primary dysfunction of central nervous system, type 2: associated with an immune defect and type3: restricted to hypopigmentation without any immunologic or neurologic manifestations. At least 10 families reported with variants in MYO5A, mostly for type 1 but 2,439-bp deletion spanning the entire F-exon has been reported in type 3 patients. DD/ID can be seen in condition.
Created: 3 Oct 2024, 1:22 a.m. | Last Modified: 3 Oct 2024, 1:22 a.m.
Panel Version: 0.6303

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Griscelli syndrome, type 1 MIM#214450

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Griscelli syndrome, type 1 MIM#214450
OMIM
160777
Clinvar variants
Variants in MYO5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myo5a has been classified as Green List (High Evidence).

3 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYO5A were changed from to Griscelli syndrome, type 1 MIM#214450

3 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYO5A were set to

3 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYO5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYO5A was added gene: MYO5A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYO5A was set to Unknown