Leukodystrophy - adult onset
Gene: POLR1C
PMID: 33190326
- 1x adult homozygous for a missense
PMID: 34484918
- 1x 35 yr old born of consanguineous marriage
- homozygous for a missense
- HOWEVER it was noted that he did have pre-existing behavioural disturbances and ID in childhood. Therefore, white matter abnormalities may have been present at an earlier age but there is a lack of previous imaging
https://n.neurology.org/content/86/16_Supplement/P5.171
- 1x 42 yr old man presented with 10 years of slowly progressive dysarthria, cognitive decline for > 6 years, and more recent behavioral symptoms including depression, irritability and profound apathy. Perinatal and early developmental history were normal
- Younger brother developed behavioral problems at age 4, tremors age 5, gait ataxia in his teens, becoming wheelchair dependent in his 20s
- both homozygous for a missense variantCreated: 14 Sep 2021, 7:23 a.m. | Last Modified: 14 Sep 2021, 7:23 a.m.
Panel Version: 0.90
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 11, MIM# 616494
Publications
Comment when marking as ready: Four adults from three families reported.Created: 16 Sep 2021, 8:21 a.m. | Last Modified: 16 Sep 2021, 8:21 a.m.
Panel Version: 0.92
Generally paediatric onset disorder. I can only find one case report in a supplement of adult-onset.Created: 20 Jun 2020, 7:33 a.m. | Last Modified: 20 Jun 2020, 7:33 a.m.
Panel Version: 0.61
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 11, MIM# 616494
Publications
Gene: polr1c has been classified as Green List (High Evidence).
Publications for gene: POLR1C were set to
Gene: polr1c has been classified as Green List (High Evidence).
Gene: polr1c has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: POLR1C were changed from Leukodystrophy, hypomyelinating, 11 to Leukodystrophy, hypomyelinating, 11, MIM# 616494
Gene: polr1c has been classified as Amber List (Moderate Evidence).
gene: POLR1C was added gene: POLR1C was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR1C were set to Leukodystrophy, hypomyelinating, 11