Hydrocephalus
Gene: SEC24D
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
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
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 AmberCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Only two families reported to date. Watchlist at presentCreated: 9 May 2017, 1:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cole-Carpenter syndrome 2
Publications
Phenotypes for gene: SEC24D were changed from Cole-Carpenter syndrome 2 to Cole-Carpenter syndrome 2, OMIM:616294
Publications for gene: SEC24D were set to 25683121
Source NHS GMS was added to SEC24D.
31.05.2017 - panel revised after internal curation and clinical review.
SEC24D was added to Hydrocephaluspanel. Source: Expert Review Amber
SEC24D was added to Hydrocephaluspanel. Sources: Literature
SEC24D was created by helen.brittain