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| Hand and foot malformations v0.86 | DLX5 downstream regulatory region |
Sarah Milton changed review comment from: DLX5 encodes a transcription factor essential for epidermal morphogenesis and limb development. Expression is known to be regulated by p63 (encoded for by TP63). Over 20 families have been reported with deletions or translocations involving a region downstream from DLX5 with split-hand foot malformation with incomplete penetrance. Deletions are highly variable in size ranging from 17kb to megabase in size. The region deleted is located within the protein coding gene DYNC1I1. However haploinsufficiency of this gene is not thought to be the mechanism of disease . It has been demonstrated enhancer elements that regulate expression of DLX5 are located within exons 14-17 of DYNC1I1 with individuals with balanced translocations disrupting the region also having a similar phenotype. Note: coordinates used for this entry are that of the refseq for DYNC1I1, much larger or smaller deletions or disruption to the region from translocations/inversions may still be causative of disease. Sources: Literature; to: DLX5 encodes a transcription factor essential for epidermal morphogenesis and limb development. Expression is known to be regulated by p63 (encoded for by TP63). Over 20 families have been reported with deletions or translocations involving a region downstream from DLX5 with split-hand foot malformation with incomplete penetrance. Deletions are highly variable in size ranging from 17kb to megabase in size. The region deleted is located within the protein coding gene DYNC1I1. However haploinsufficiency of this gene is not thought to be the mechanism of disease . It has been demonstrated enhancer elements that regulate expression of DLX5 are located within exons 14-17 of DYNC1I1 with individuals with balanced translocations disrupting the region also having a similar phenotype. Note: coordinates used for this entry encompass exons 14 to 17 of DYNC1I1 much larger deletions or disruption to the region from translocations/inversions may still be causative of disease. Sources: Literature |
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| Hand and foot malformations v0.72 | DYNC1I1 | Zornitza Stark Phenotypes for gene: DYNC1I1 were changed from Split-hand/split-foot malformation (SHFM) to Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.16 | DYNC1I1 | Bryony Thompson Marked gene: DYNC1I1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.16 | DYNC1I1 | Bryony Thompson Gene: dync1i1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.16 | DYNC1I1 | Bryony Thompson Phenotypes for gene: DYNC1I1 were changed from to Split-hand/split-foot malformation (SHFM) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.15 | DYNC1I1 | Bryony Thompson Publications for gene: DYNC1I1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.14 | DYNC1I1 | Bryony Thompson Mode of inheritance for gene: DYNC1I1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.13 | DYNC1I1 | Bryony Thompson Tag SV/CNV tag was added to gene: DYNC1I1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.13 | DYNC1I1 | Bryony Thompson Classified gene: DYNC1I1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.13 | DYNC1I1 | Bryony Thompson Gene: dync1i1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.12 | DYNC1I1 | Bryony Thompson reviewed gene: DYNC1I1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22914741, 25231166, 32219838; Phenotypes: Split-hand/split-foot malformation (SHFM); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.0 | DYNC1I1 |
Bryony Thompson gene: DYNC1I1 was added gene: DYNC1I1 was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: DYNC1I1 was set to Unknown |
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