Possible mitochondrial disorder - nuclear genes
Gene: HSPD1
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant 605280
Comment on mode of inheritance: Monallelic = Spastic paraplegia 13, autosomal dominant, biallelic = Leukodystrophy, hypomyelinating, 4.Created: 2 Mar 2016, 12:36 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a G2P DD and IF gene for SPASTIC PARAPLEGIA AUTOSOMAL DOMINANT TYPE 13 and LEUKODYSTROPHY HYPOMYELINATING TYPE 4.Created: 2 Mar 2016, 12:35 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant 605280; Leukodystrophy, hypomyelinating, 4, 612233 to Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR); Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
gene: HSPD1 was added gene: HSPD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HSPD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant 605280; Leukodystrophy, hypomyelinating, 4, 612233