SPECC1L

sperm antigen with calponin homology and coiled-coil domains 1 like
OMIM: 614140
PanelMode of inheritanceDetails
4 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
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
R-numbers: R100
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Opitz GBBB syndrome, type II 145410
R-numbers: R21, R412
Signed-off version 2.1
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Opitz GBBB syndrome, type II,145410, Intellectual disability, Autosomal dominant Opitz G/BBB syndrome