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GenomicsTHAP11 mutations in a patient with a cblX-like phenotype implicates THAP11 in the regulation of cobalamin metabolism and early vertebrate development
Mutations in HCFC1 are associated with cblX (MIM309541), an X-linked recessive disorder, characterized by defects in cobalamin metabolism and other developmental defects. HCFC1 is a transcriptional co-regulator, which interacts with transcription factors to regulate the expression of a myriad of gen...
EGAS00001002201 | EGA
Genomicsena-DATASET-MCGILL-EDCC-12-01-2017-18:11:29:150-25 - samples
RNA sequencing of 31 patient-derived fibroblast cell lines from patients with inborn errors of cobalamin (vitamin B12) metabolism, and 7 control samples. The RNA seq library was prepared using the TruSeq Stranded Total RNA Sample Preparation Kit (Illumina RS-122–2301) including Ribo-Zero Gold deplet...
EGAD00001003142 | EGA
UnknownData sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.

Background

This study aimed to identify and resolve discordant variant interpretations across clinical molecular genetic laboratories through the Canadian Open Genetics Repository (COGR), an online collaborative effort for variant sharing and interpretation.

Methods

Laboratories uploa...
S-EPMC8523590 | biostudies-literature
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