Severe microcephaly
Gene: PCLO
PMID:25832664 - single family, truncating variants, phenotype of cerebellar atrophy with progressive microcephaly. Microcephaly was noted at birth as well. Relevant phenotype, insufficient evidence. Need more cases to confirm a gene:disease relationship. Provisionally rated Amber (or Red.Created: 10 Oct 2019, 10:30 a.m. | Last Modified: 10 Oct 2019, 10:30 a.m.
Panel Version: 1.74
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Pontocerebellar hypoplasia, type 3, 608027
Publications
Gene rated Red- this rating was suggested in an email to the test group on 6th November after review by Genomics England clinical team review, and indicating if there were no further comments on the rating the gene would rated as per provisional suggestion as per recommended on the current evidence in the literatureCreated: 27 Nov 2019, 3:12 p.m. | Last Modified: 27 Nov 2019, 3:12 p.m.
Panel Version: 1.76
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green
Sources: Expert listCreated: 29 Jul 2019, 3:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 3, 608027
Publications for gene: PCLO were set to
Source NHS GMS was added to PCLO.
gene: PCLO was added gene: PCLO was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia, type 3, 608027 Review for gene: PCLO was set to GREEN