Genomics England
GMS Panels
Panels
Genes and Entities

SPECC1L

sperm antigen with calponin homology and coiled-coil domains 1 like
OMIM: 614140
PanelMode of inheritanceDetails
5 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Facial clefting, oblique, 1, 600251, Opitz GBBB syndrome, type II (with clefting), 145410, OPITZ GBBB SYNDROME, TYPE II, GBBB2
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
FACIAL CLEFTING, OBLIQUE, 1 600251
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Opitz GBBB syndrome, type II,145410, Intellectual disability, Autosomal dominant Opitz G/BBB syndrome
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Opitz GBBB syndrome, type II 145410