Limb disordersGene: STKLD1
Umair Clin Genet 2:134-9;2019) Table 1 includes useful review, GLI1 and FAM92A are also not mentioned in list
Created: 1 Aug 2019, 5:10 p.m. | Last Modified: 1 Aug 2019, 5:10 p.m.
Panel Version: 1.24
Comment on list classification: Promoting from red to amber. 2 cases which appear to be from unrelated families although the same variant was found.
Created: 7 Aug 2019, 1:38 p.m. | Last Modified: 7 Aug 2019, 1:38 p.m.
Panel Version: 1.48
This gene is not in OMIM or Gene2Phenotype.
PMID: 30945277 - Umair et al 2019 - 2 consanguineous families of Pakistani origin segregating non‐syndromic pre‐axial polydactyly in autosomal recessive manner. The families originated from two different parts of Pakistan. Whole exome sequencing was used to identify the same homozygous variant c.84C > A, p.Tyr28* (NM_153710.3) in both families that segregated with the condition. 2 affected and 5 unaffected family members were analysed. The variant was not found in homozygous state in ExAC, gnomAD, internal database, 1000 Genomes, EVS, dbSNP, and predicted to be damaging in online available tools used for bioinformatics analysis. However, a minor allele frequency of 0.001119 for the variant was noted in the South Asian population.
The transcript mentioned in this paper NM_153710.3 is linked to GeneID:169436, HGNC:28669 which is STKLD1 (previous name C9orf96).
Created: 7 Aug 2019, 12:32 p.m. | Last Modified: 7 Aug 2019, 12:50 p.m.
Panel Version: 1.45
Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Created: 1 Aug 2019, 4:37 p.m.
Mode of inheritance
Gene: stkld1 has been classified as Amber List (Moderate Evidence).
gene: STKLD1 was added gene: STKLD1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: STKLD1 was set to Unknown Review for gene: STKLD1 was set to AMBER