Cerebral Palsy

Gene: HPDL

Green List (high evidence)

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

• PMID: 35985664
• PMID: 33634263
• PMID: 32707086

Green List (high evidence)

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

• 33634263
• 32707086

I don't know

Overlapping phenotype, one family reported with cerebral palsy diagnosis and bi-allelic variants in this gene.
Sources: Literature

Created: 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

• 33634263