1. Panels
  2. Clefting
  3. SPECC1L
Genes in panel
Prev Next
STRs in panel
Prev Next

Clefting

Gene: SPECC1L

Green List (high evidence)
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

3 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Two reported families but functional work also undertaken
Created: 26 May 2017, 7:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OPITZ GBBB SYNDROME, TYPE II; GBBB2

Created: 26 May 2017, 7:39 a.m.

Panel version: 0.193

Louise Daugherty (Genomics England Curator)

Comment on publications: added missing publiactions
Created: 18 Jul 2018, 4:57 p.m.
Comment on phenotypes: Currently not enough evidence, there is only one case for Oblique facial clefting-1 (PMID: 21703590) and for GBBB syndrome ll there are only two unrelated cases (PMID: 1897571; 8849002)
Created: 8 Feb 2017, 4:24 p.m.
Created: 8 Feb 2017, 2:32 p.m.

Panel version: 0.157

Usha Kini (Oxford Centre for Genomic Medicine)

Phenotypes
Oblique facial clefts

Created: 8 Dec 2016, 10:53 a.m.

Panel version: 0.35

Details

Mode of Inheritance
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
OMIM
614140
Clinvar variants
Variants in SPECC1L
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Jul 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SPECC1L were set to 1897571; 8849002; 21703590; 25412741

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

SPECC1L was added to Cleftingpanel. Source: Expert Review Green Model of inheritance for gene SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Feb 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SPECC1L were set to ?Facial clefting, oblique, 1, 600251; Opitz GBBB syndrome, type II (with clefting), 145410

8 Feb 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SPECC1L were set to ?Facial clefting, oblique, 1, 600251; Opitz GBBB syndrome, type II (with clefting), 145410

18 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

SPECC1L was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen

18 Aug 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

SPECC1L was created by oniblock