Craniosynostosis

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Kruska et al 2015 report 2 families, one had metopic CSS and second had sagittal CSS. Bhoj et al 2015 report a further case with Teebi hypertelorism with MSS. ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Opitz G/BBB syndrome type 2

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13.
Created: 21 May 2019, 12:37 p.m.
Comment on publications: Kruska et al 2015 PMID: 25412741, Bhoj et al 2015 PMID: 26111080
Created: 2 May 2019, 10:07 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SPECC1L; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

Recently recognised, frequency of craniosynostosis not known, other clinical features include hypertelorism, down-slanting palpebral fissures, broad nasal bridge, cleft lip/palate, micrognathia, laryngealtracheoesophagel anomalies, congenital heart defects, developmental delay
Created: 15 Sep 2015, 9:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Opitz G/BBB syndrome type II

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Opitz GBBB syndrome, type II 145410
OMIM
614140
Clinvar variants
Variants in SPECC1L
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 May 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SPECC1L were changed from Opitz G/BBB syndrome type 2 to Opitz GBBB syndrome, type II 145410

21 May 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: specc1l has been classified as Green List (High Evidence).

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Opitz G/BBB syndrome type 2 for gene: SPECC1L

2 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SPECC1L were set to 25412741

2 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SPECC1L were set to 25412741

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SPECC1L.

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Feb 2016, Gel status: 0

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been removed from the panel.

15 Sep 2015, Gel status: 0

Added New Source

Andrew Wilkie (University of Oxford)

SPECC1L was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review