Cerebral Palsy
Gene: HPDL
At least 3 unrelated individuals with biallelic variants in HPDL have been reported with clinical diagnosis of cerebral palsy. Variable phenotype has been reported for NEDSWMA (MIM#619026), including early onset without obvious progression.Created: 3 Aug 2023, 2:38 a.m. | Last Modified: 3 Aug 2023, 2:38 a.m.
Panel Version: 1.178
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026
Publications
One paper reports on 7 individuals from 2 branches of 1 large family that present with spastic cerebral palsy due to biallelic mutations in HPDL. Another report (32707086) presents 17 cases of patients with biallelic HPDL mutations and different degrees of neuromuscular and neurodegenerative disease, at least one of these individuals presented with a non-progressive movement disorder, seizures and ID.Created: 5 Jun 2023, 4:53 a.m. | Last Modified: 5 Jun 2023, 4:53 a.m.
Panel Version: 1.86
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026
Publications
Overlapping phenotype, one family reported with cerebral palsy diagnosis and bi-allelic variants in this gene.
Sources: LiteratureCreated: 21 Jun 2021, 10:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM# 619026; Spastic paraplegia 83, autosomal recessive, MIM# 619027
Publications
Publications for gene: HPDL were set to 33634263
Gene: hpdl has been classified as Green List (High Evidence).
Gene: hpdl has been classified as Amber List (Moderate Evidence).
Gene: hpdl has been classified as Amber List (Moderate Evidence).
gene: HPDL was added gene: HPDL was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 33634263 Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM# 619026; Spastic paraplegia 83, autosomal recessive, MIM# 619027 Review for gene: HPDL was set to AMBER