Clefting
Region: ISCA-37467-Gain7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain
Chromosome: 7
GRCh38 Position: 156791102-156791874
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 60%
Variant types: CNV Gain
GRCh38 Position: 156791102-156791874
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 60%
Variant types: CNV Gain
1 review
Arina Puzriakova (Genomics England Curator)
The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.Created: 16 Mar 2022, 1:22 p.m. | Last Modified: 16 Mar 2022, 1:22 p.m.
Panel Version: 2.66
Details
- ISCA ID
- ISCA-37467-Gain
- ISCA Region Name
- 7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain
- Chromosome
- 7
- GRCh38 Coordinates
- 156791102-156791874
- Haploinsufficiency Score
- Triplosensitivity Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Required percent of overlap
- 60%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- ClinGen
- Phenotypes
-
- human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype
- 174500
- Triphalangeal thumbpolysyndactyly syndrome
- syndactyly type IV with tibial hypoplasia
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
- Publications
History Filter Activity
16 Mar 2022, Gel status: 3
Changed Required Overlap Percentage
Arina Puzriakova (Genomics England Curator)Required Overlap Percentage for ISCA-37467-Gain was changed from 80 to 60.
7 Sep 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)Region: ISCA-37467-Gain was added Region: ISCA-37467-Gain was added to Clefting. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37467-Gain were set to 19291772; 18417549; 18178630 Phenotypes for Region: ISCA-37467-Gain were set to human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype; 174500; Triphalangeal thumbpolysyndactyly syndrome; syndactyly type IV with tibial hypoplasia