Fetal anomalies
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

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.

Panel Version: 1.836

Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 5:05 p.m. | Last Modified: 1 Feb 2021, 5:05 p.m.

Panel Version: 1.562

Created: 1 Feb 2021, 5:05 p.m.
Last Modified: 1 Feb 2021, 5:05 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Clefting; Craniosynostosis
Created: 28 Jan 2021, 2:44 p.m. | Last Modified: 28 Jan 2021, 2:44 p.m.

Panel Version: 1.187

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

Phenotypes
?Facial clefting, oblique, 1; Hypertelorism, Teebi type; Opitz GBBB syndrome, type II

Created: 28 Jan 2021, 2:44 p.m.
Last Modified: 28 Jan 2021, 2:44 p.m.
Panel version: 1.187

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for FACIAL CLEFTING, OBLIQUE, 1
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
PAGE DD-Gene2Phenotype

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

OMIM

614140

Clinvar variants

Variants in SPECC1L

Penetrance

None

Panels with this gene