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Hydrocephalus

Gene: SEC24D

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

4 reviews

Ivone Leong (Genomics England Curator)

I don't know

This gene is associated with a phenotype in OMIM and Gene2Phenotype.

PMID: 25683121. 2 cases. 1 case has hydrocephalus and there was no mention of hydrocephalus in the 2nd case.
PMID: 26467156. Chinese case. No mention of hydrocephalus in this case.
PMID: 27942778. 2 Chinese cases. No mention of hydrocephalus in these cases.
PMID: 30462379. Japanese case. Patient has hydrocephalus.

Based on the current literature there is currently not enough evidence to support a gene-disease association. This gene will remain Amber until more evidence is available.
Created: 21 Jun 2021, 12:55 p.m. | Last Modified: 21 Jun 2021, 12:55 p.m.
Panel Version: 2.111
Created: 21 Jun 2021, 12:55 p.m.
Last Modified: 21 Jun 2021, 12:55 p.m.
Panel version: 2.111

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three further families reported, at least one (30462379) specifically had hydrocephalus.
Created: 8 Aug 2020, 1:58 a.m. | Last Modified: 8 Aug 2020, 2:04 a.m.
Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cole-Carpenter syndrome 2, MIM# 616294

Publications

Created: 8 Aug 2020, 1:58 a.m.
Last Modified: 8 Aug 2020, 2:04 a.m.
Panel version: 2.5

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Created: 29 Jul 2019, 2:49 p.m.
Last Modified: 29 Jul 2019, 2:49 p.m.
Panel version: 1.34

Helen Brittain (Genomics England Curator)

I don't know

Only two families reported to date. Watchlist at present
Created: 9 May 2017, 1:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cole-Carpenter syndrome 2

Publications

Created: 9 May 2017, 1:23 p.m.

Panel version: 0.58

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Cole-Carpenter syndrome 2, OMIM:616294
Tags
watchlist
OMIM
607186
Clinvar variants
Variants in SEC24D
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SEC24D were changed from Cole-Carpenter syndrome 2 to Cole-Carpenter syndrome 2, OMIM:616294

29 Mar 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SEC24D were set to 25683121

29 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SEC24D.

31 May 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

9 May 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC24D was added to Hydrocephaluspanel. Source: Expert Review Amber

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

SEC24D was added to Hydrocephaluspanel. Sources: Literature

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

SEC24D was created by helen.brittain