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Intellectual disability syndromic and non-syndromic

Gene: RBM10

Green List (high evidence)

RBM10 (RNA binding motif protein 10)
EnsemblGeneIds (GRCh38): ENSG00000182872
EnsemblGeneIds (GRCh37): ENSG00000182872
OMIM: 300080, Gene2Phenotype
RBM10 is in 11 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Germline missense have not been reported path in association with disease, PMID: 24000153 reviews that somatic missense have been reported for lung adenocarcinoma. However, there is speculation in the literature that hypomorphic alleles could cause an as yet unrecognized phenotype as missense haven’t been reported pathogenic and that this gene is missense depleted (very constraint gene) (PMID: 24259342; 30462380).
Created: 29 May 2020, 9:19 a.m. | Last Modified: 29 May 2020, 9:19 a.m.
Panel Version: 0.2652

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
TARP syndrome, 311900 (3), X-linked recessive

Publications

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • TARP syndrome, 311900 (3), X-linked recessive
OMIM
300080
Clinvar variants
Variants in RBM10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbm10 has been classified as Green List (High Evidence).

29 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RBM10 were changed from to TARP syndrome, 311900 (3), X-linked recessive

29 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RBM10 were set to

29 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RBM10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RBM10 was added gene: RBM10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBM10 was set to Unknown