Cerebellar hypoplasiaGene: ISPD
Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPA
Created: 28 Jan 2019, 4:28 p.m.
Identified in many families. Cerebellar hypoplasia seen among other brain anomalies
Created: 16 Nov 2016, 10:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643
Tag new-gene-name tag was added to gene: ISPD.
22/02/2017: Panel revised after internal clinical review and further curation.
Publications for ISPD were set to 22522420
This gene has been classified as Green List (High Evidence).
ISPD was added to Cerebellar hypoplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
ISPD was created by ellenmcdonagh