Skeletal dysplasia
Gene: SPECC1LComment when marking as ready: Associated with phenotypes Facial clefting, oblique, 1 600251; Opitz GBBB syndrome, type II 145410 in OMIM and Facial clefting, oblique, 1 600251 in G2P. One variant each reported in Facial clefting, oblique, 1 600251; Opitz GBBB syndrome, type II 145410 and two variants reported in Teebi hyperterorism like syndrome 145420Created: 1 Aug 2016, 7:45 a.m.
Comment on mode of inheritance: Opitz GBBB syndrome, type II 145410 (autosomal dominant), Facial clefting, oblique, 1 600251 (isolated case)Created: 1 Aug 2016, 7:34 a.m.
Tier 3Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
?Facial clefting, oblique, 1 600251 IC; Opitz GBBB syndrome, type II 145410
Variants in this GENE are reported as part of current diagnostic practice
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for SPECC1L were set to Facial clefting, oblique, 1 600251; Opitz GBBB syndrome, type II 145410; Teebi hyperterorism like syndrome 145420
Phenotypes for SPECC1L were set to Facial clefting, oblique, 1 600251; Opitz GBBB syndrome, type II 145410; Teebi hyperterorism and cranyosynostosis 145420
Publications for SPECC1L were set to 26111080
Mode of inheritance for SPECC1L was changed to Other - please specifiy in evaluation comments
SPECC1L was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
SPECC1L was added to Unexplained skeletal dysplasiapanel. Sources:
SPECC1L was created by sleigh