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  2. Hydrocephalus_Ventriculomegaly
  3. SEC24D
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Hydrocephalus_Ventriculomegaly

Gene: SEC24D

Green List (high evidence)
SEC24D (SEC24 homolog D, COPII coat complex component)
EnsemblGeneIds (GRCh38): ENSG00000150961
EnsemblGeneIds (GRCh37): ENSG00000150961
OMIM: 607186, Gene2Phenotype
SEC24D is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five families reported, hydrocephalus is part of the phenotype.
Sources: Expert list
Created: 8 Aug 2020, 2 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cole-Carpenter syndrome 2, MIM# 616294

Publications

Created: 8 Aug 2020, 2 a.m.

Panel version: 0.40

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cole-Carpenter syndrome 2, MIM# 616294
OMIM
607186
Clinvar variants
Variants in SEC24D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sec24d has been classified as Green List (High Evidence).

8 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sec24d has been classified as Green List (High Evidence).

8 Aug 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: SEC24D was added gene: SEC24D was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC24D were set to 30462379; 27942778; 26467156; 25683121 Phenotypes for gene: SEC24D were set to Cole-Carpenter syndrome 2, MIM# 616294 Review for gene: SEC24D was set to GREEN