Incidentalome_PREGEN_DRAFT

Gene: ZBTB16

Red List (low evidence)

Insufficient evidence as a cause for Mendelian diseases: OMIM entry includes only:

In a 12.75-year-old boy with skeletal defects, genital hypoplasia, and mental retardation, originally reported by Wieczorek et al. (2002), Fischer et al. (2008) performed array-based CGH and identified an approximately 8-Mb de novo deletion on the paternal chromosome 11, a region containing about 72 genes. Sequence analysis of the candidate gene ZBTB16 (176797) on the maternal allele revealed a missense mutation (176797.0001); functional analysis showed that the mutation impairs ZBTB16 function. The mother, who was a heterozygous carrier of the mutation, had no hand or forearm abnormalities on x-ray examination. No mutations were found in the ZBTB16 gene in 41 patients who had clinical overlap with this patient, including patients with thrombocytopenia-absent radius syndrome (274000), a tentative diagnosis of Holt-Oram syndrome (142900), or severe radial defects.

No other substantive publications confirming this as a mendelian gene

Should be removed from this panel of adult onset untreatable Mendelian disorders

Created: 7 Jan 2021, 12:57 a.m. | Last Modified: 7 Jan 2021, 12:57 a.m.

Panel Version: 0.6