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  2. Frontonasal dysplasia
  3. SPECC1L
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Frontonasal dysplasia

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, phenotypic overlap with FND.
Created: 18 Jan 2021, 11:42 p.m. | Last Modified: 18 Jan 2021, 11:42 p.m.
Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 18 Jan 2021, 11:42 p.m.
Last Modified: 18 Jan 2021, 11:42 p.m.
Panel version: 0.16

Details

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

History Filter Activity

18 Jan 2021, 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 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SPECC1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPECC1L was added gene: SPECC1L was added to Frontonasal dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SPECC1L was set to Unknown