PanelApp (stage)
  1. Genes and Genomic Entities
  2. SF3B4

SF3B4

splicing factor 3b subunit 4
OMIM: 605593, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green SF3B4 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SF3B4 in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acrofacial dysostosis 1, Nager type, MIM# 154400

Green SF3B4 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acrofacial dysostosis 1, Nager type, MIM# 154400

Green SF3B4 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.47

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SF3B4 in Radial Ray Abnormalities


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Acrofacial dysostosis 1, Nager type, MIM# 154400

    Green SF3B4 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red SF3B4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Acrofacial dysostosis 1, Nager type, MIM#154400

    Green SF3B4 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Acrofacial dysostosis 1, Nager type 154400

    Green SF3B4 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
    • AFD1

    Green SF3B4 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.74

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Acrofacial dysostosis 1, Nager type 154400

    Green SF3B4 in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Acrofacial dysostosis 1, Nager type, MIM# 154400