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  2. Congenital diaphragmatic hernia
  3. SPECC1L
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Congenital diaphragmatic hernia

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)

5 individuals with CDH and AD Opitz GBBB syndrome caused by SPECC1L variants reported.
Sources: Literature
Created: 4 Oct 2020, 11:25 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Opitz GBBB syndrome, type II, MIM# 145410

Publications

Created: 4 Oct 2020, 11:25 p.m.

Panel version: 0.8

Details

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

History Filter Activity

4 Oct 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).

4 Oct 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).

4 Oct 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPECC1L was added gene: SPECC1L was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPECC1L were set to 32954677 Phenotypes for gene: SPECC1L were set to Opitz GBBB syndrome, type II, MIM# 145410 Review for gene: SPECC1L was set to GREEN