Neurofibromatosis Type 1

Gene: POLA1

I don't know

From PMID: 27019227 (2012) In affected members of 12 unrelated families with X-linked PDR, a intronic mutation, hemizygous (in males) or heterozygous (in females) was idenitified in the POLA1 gene. All affected individuals carried the same mutation.The clinical phenotype of the patient cohort was accessed and only two cases were reported with developmental delay phenotype (cases from Dallas, Canada), but there is an additional unrleated case from Waco denoted with Failure to thrive phenotype. Gene added to the NF1 panel from a review of the gene in relation to the intellectual disability panel after discussion with the clinical team.
Added non-coding-known-pathogenic variant tag

Created: 5 Dec 2017, 5:03 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220; XLPDR

Publications

• 15844784
• 27019227
• 19377476