Hydrocephalus
Gene: MPDZThe 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
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
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
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
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
Tag Q2_21_rating was removed from gene: MPDZ.
Source Expert Review Green was added to MPDZ. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag watchlist was removed from gene: MPDZ. Tag Q2_21_rating tag was added to gene: MPDZ.
Publications for gene: MPDZ were set to 23240096; 28460636
Phenotypes for gene: MPDZ were changed from Hydrocephalus, nonsyndromic, autosomal recessive 2, OMIM:615219 to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219
Phenotypes for gene: MPDZ were changed from Hydrocephalus, nonsyndromic, autosomal recessive 2 615219 to Hydrocephalus, nonsyndromic, autosomal recessive 2, OMIM:615219
Source NHS GMS was added to MPDZ.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for MPDZ were set to Hydrocephalus, nonsyndromic, autosomal recessive 2 615219
Publications for MPDZ were set to 23240096; 28460636
This gene has been classified as Amber List (Moderate Evidence).
MPDZ was created by oniblock
MPDZ was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen