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Intellectual disability

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

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene added by external expert review, who notes the two reported families and an additional case not in the literature, support gene-disease association and rating of this gene to Green.
Created: 18 Jul 2018, 5:04 p.m.
Two reported families but functional work also undertaken, plus consideration of external review this gene can be Green
Created: 18 Jul 2018, 4:55 p.m.

Zornitza Stark (Australian Genomics)

I don't know

Two families reported in the literature, and we have had another through our diagnostic laboratory. ID can be a feature. Consider inclusion as Amber.
Created: 22 Jun 2018, 2:45 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Opitz GBBB syndrome, type II

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Opitz GBBB syndrome, type II,145410
  • Intellectual disability
  • Autosomal dominant Opitz G/BBB syndrome
OMIM
614140
Clinvar variants
Variants in SPECC1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to SPECC1L.

18 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

18 Jul 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SPECC1L were set to Opitz GBBB syndrome, type II,145410; Intellectual disability; Autosomal dominant Opitz G/BBB syndrome

18 Jul 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SPECC1L were set to Opitz GBBB syndrome, type II,145410; Intellectual disability

18 Jul 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

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

18 Jul 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

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

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

SPECC1L was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

SPECC1L was created by Zornitza Stark