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  3. RBM10
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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, multiple congenital anomalies.
Created: 16 Feb 2022, 5:44 a.m. | Last Modified: 16 Feb 2022, 5:44 a.m.
Panel Version: 0.3561

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

Phenotypes
TARP syndrome, MIM# 311900

Publications

Created: 12 Jul 2020, 10:03 a.m.
Last Modified: 12 Jul 2020, 10:03 a.m.
Panel version: 0.3561

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

Created: 29 May 2020, 9:19 a.m.
Last Modified: 29 May 2020, 9:19 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2652

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Tarp syndrome, MONDO:0010711
  • TARP syndrome, OMIM:311900
OMIM
300080
Clinvar variants
Variants in RBM10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2022, 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).

16 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RBM10 were set to

16 Feb 2022, 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).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RBM10 was added gene: RBM10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RBM10 were set to Tarp syndrome, MONDO:0010711; TARP syndrome, OMIM:311900