Cerebellar and Pontocerebellar Hypoplasia

Gene: ISPD

Green List (high evidence)

ISPD (isoprenoid synthase domain containing)
EnsemblGeneIds (GRCh38): ENSG00000214960
EnsemblGeneIds (GRCh37): ENSG00000214960
OMIM: 614631, Gene2Phenotype
ISPD is in 17 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 22522421 - 11 patients with severe WWS, only two survived beyond 2 years of age. "Routine cerebral MRI
showed typical features of cobblestone lissencephaly together with hydrocephalus, cerebellar hypoplasia and a kinked brainstem".
10/11 patients either had chet mutations (missense, PTC) or homozygous PTCs/exon deletions, and diagnosed with either WSS or MEB. A single patient was homozygous for a missense. 10/11 reported specifically with "cerebellar abnormalities", no specific numbers for cerebellar hypoplasia.

PMID: 22522420 - single patient with WWS, chet for exon deletions/PTC. MRI taken at 5 months of age shows hypoplastic brainstem and cerebellar vermis.
Sources: Expert list
Created: 29 Apr 2020, 1:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052; Walker–Warburg syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052
  • Walker–Warburg syndrome
OMIM
614631
Clinvar variants
Variants in ISPD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ispd has been classified as Green List (High Evidence).

29 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ispd has been classified as Green List (High Evidence).

29 Apr 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: ISPD was added gene: ISPD was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISPD were set to PMID: 22522421; 22522420 Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052; Walker–Warburg syndrome Review for gene: ISPD was set to GREEN