Microcephaly
Gene: HPDLEnsemblGeneIds (GRCh38): ENSG00000186603
EnsemblGeneIds (GRCh37): ENSG00000186603
HPDL is in 11 panels
1 review
Lucy Spencer (Victorian Clinical Genetics Services)
PMID: 33188300 cohort of infantile neurodegenerative condition, all have biallelic HPDL variants. 7 of 14 individuals have microcephaly, however its noted that head circumference was not remarkable at birth but smaller head circumference/microcephaly was seen by 5 years old.
Sources: LiteratureCreated: 11 May 2023, 1:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (MIM#619026)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (MIM#619026)
- Clinvar variants
- Variants in HPDL
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hpdl has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hpdl has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lucy Spencer (Victorian Clinical Genetics Services)gene: HPDL was added gene: HPDL was added to Microcephaly. Sources: Literature Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 33188300 Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (MIM#619026) Review for gene: HPDL was set to GREEN