RBM8A

RNA binding motif protein 8A
OMIM: 605313, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green RBM8A in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Thrombocytopenia-absent radius syndrome, 274000
Green RBM8A in Limb disorders Version 4.21 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Expert Review Green London South East RGC GSTT Viapath Phenotypes Thrombocytopenia-absent radius syndrome, 274000
Green RBM8A in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Thrombocytopenia-absent radius syndrome (TAR)
Red RBM8A in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	Other - please specifiy in evaluation comments	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome 274000 Tags currently-ngs-unreportable
Green RBM8A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Thrombocytopenia-absent radius syndrome 274000
Green RBM8A in Bleeding and platelet disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green North West GLH Yorkshire and North East GLH London South GLH NHS GMS Wessex and West Midlands GLH Phenotypes 274000 Thrombocytopenia-absent radius syndrome
Red RBM8A in Cytopenia - NOT Fanconi anaemia Version 3.33 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert review Red Wessex and West Midlands GLH North West GLH Yorkshire and North East GLH NHS GMS London South GLH Phenotypes 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related 615190 DC type 4 and 5 274000 Thrombocytopenia-absent radius syndrome
Green RBM8A in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Green RBM8A in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 274000
Red RBM8A in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.110 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME TAR
Red RBM8A in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO
Green RBM8A in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Thrombocytopenia-absent radius syndrome, 274000