Hydrocephalus

Gene: MPDZ

The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.

Created: 14 Mar 2022, 1:52 p.m. | Last Modified: 14 Mar 2022, 1:52 p.m.

Panel Version: 2.127

Green List (high evidence)

This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.

Created: 21 Jun 2021, 9:19 a.m. | Last Modified: 21 Jun 2021, 9:19 a.m.

Panel Version: 2.111

Green List (high evidence)

Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families report from different ethnic backgrounds and at least 4 different variants. Mouse model.

Created: 8 Aug 2020, 12:54 a.m. | Last Modified: 8 Aug 2020, 12:54 a.m.

Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrocephalus, congenital, 2, with or without brain or eye anomalies 615219

Publications

• 28556411
• 23240096
• 30518636
• 29499638

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

I don't know

Comment when marking as ready: Insufficient evidence based upon information available, but extremely borderline. Could reach to three+ unrelated families, but based upon lack of confirmation added as watchlist at present.

Created: 4 May 2017, 9:51 a.m.

Two apparently unrelated Saudi families, but with the same nonsense mutation in PMID 23240096. Three fetuses reported in PMID 28460636 (only abstract accessed and therefore mutation information and whether they are from single family is not known). As a caution, evidence not considered clear enough for inclusion but watchlist appropriate.

Created: 4 May 2017, 9:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrocephalus, nonsyndromic, autosomal recessive 2 615219

Publications

• 23240096
• 28460636