Skeletal dysplasia
Gene: SPECC1L

SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like)
EnsemblGeneIds (GRCh38): ENSG00000100014
EnsemblGeneIds (GRCh37): ENSG00000100014
OMIM: 614140, Gene2Phenotype
SPECC1L is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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 145420
Created: 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.

Created: 1 Aug 2016, 7:34 a.m.

Panel version: 0.1174

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 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

Created: 17 Jun 2016, 8:08 a.m.

Panel version: 0.4

Details

Mode of Inheritance

Other - please specifiy in evaluation comments

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Facial clefting, oblique, 1 600251
Opitz GBBB syndrome, type II 145410
Teebi hyperterorism like syndrome 145420

OMIM

614140

Clinvar variants

Variants in SPECC1L

Penetrance

Complete

Publications

26111080

Panels with this gene