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  3. SPECC1L
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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 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two further families identified with craniosynostosis as part of the phenotype and variants in this gene, upgrade to Green.
Created: 3 Jul 2020, 4:26 a.m. | Last Modified: 3 Jul 2020, 4:26 a.m.
Panel Version: 0.112

Phenotypes
Hypertelorism, Teebi type, MIM# 145420; Opitz GBBB syndrome, type II, MIM#145410

Publications

Created: 3 Jul 2020, 4:26 a.m.
Last Modified: 3 Jul 2020, 4:26 a.m.
Panel version: 0.112

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Three unrelated cases reported with craniosynostosis as a feature of the condition.
Sources: Expert list
Created: 18 Jun 2020, 9:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypertelorism, Teebi type MIM#145420

Publications

Created: 18 Jun 2020, 9:10 a.m.

Panel version: 0.80

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypertelorism, Teebi type MIM#145420
  • Opitz GBBB syndrome, type II, MIM#145410
OMIM
614140
Clinvar variants
Variants in SPECC1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPECC1L were changed from Hypertelorism, Teebi type MIM#145420 to Hypertelorism, Teebi type MIM#145420; Opitz GBBB syndrome, type II, MIM#145410

3 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SPECC1L were set to 26111080; 30472488

3 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: specc1l has been classified as Amber List (Moderate Evidence).

18 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: specc1l has been classified as Amber List (Moderate Evidence).

18 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SPECC1L was added gene: SPECC1L was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPECC1L were set to 26111080; 30472488 Phenotypes for gene: SPECC1L were set to Hypertelorism, Teebi type MIM#145420 Review for gene: SPECC1L was set to AMBER