1. Genes and Genomic Entities
  2. SPECC1L

SPECC1L

sperm antigen with calponin homology and coiled-coil domains 1 like
OMIM: 614140, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red SPECC1L in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Other - please specifiy in evaluation comments
    Sources
    • Expert Review Red
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Facial clefting, oblique, 1 600251
    • Opitz GBBB syndrome, type II 145410
    • Teebi hyperterorism like syndrome 145420
    Green SPECC1L in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ?Facial clefting, oblique, 1, OMIM:600251
    • Tessier number 4 facial cleft, MONDO:0010850
    • Hypertelorism, Teebi type, OMIM:145420
    • Hypertelorism, Teebi type, MONDO:0007780
    • Opitz GBBB syndrome, type II, OMIM:145410
    • Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779
    Green SPECC1L in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Opitz GBBB syndrome, type II 145410
    Green SPECC1L in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • FACIAL CLEFTING, OBLIQUE, 1 600251
    Green SPECC1L in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Facial clefting, oblique, 1, 600251
    • Opitz GBBB syndrome, type II (with clefting), 145410
    • OPITZ GBBB SYNDROME, TYPE II
    • GBBB2
    Green SPECC1L in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Literature
    Phenotypes
    • Opitz GBBB syndrome, type II,145410
    • Intellectual disability
    • Autosomal dominant Opitz G/BBB syndrome