Hydrocephalus
Gene: MAN2B1
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Comment on list classification: Discussed with Richard Scott - considered an appropriate phenotype for inclusion given macrocephalyCreated: 22 May 2017, 2:57 p.m.
Many patients identified with biallelic mutations. Mixture of truncation and missense. One recurrent missense R750W mutation.
Spectrum of disease with multi-system involvement. Macrocephaly a common feature, not hydrocephalus. Some patients onset in early - mid childhood after period of normal development.Created: 27 Apr 2017, 1:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis, alpha-, types I and II 248500
Publications
Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II 248500 to Mannosidosis, alpha-, types I and II, OMIM:248500
Source NHS GMS was added to MAN2B1.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
Phenotypes for MAN2B1 were set to Mannosidosis, alpha-, types I and II 248500
Publications for MAN2B1 were set to 9915946
Mode of inheritance for MAN2B1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
MAN2B1 was added to Hydrocephaluspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene MAN2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MAN2B1 was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen
MAN2B1 was created by oniblock