Limb disorders
Region: ISCA-37467-Gain
7q36.3 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

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this region has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 9:24 a.m. | Last Modified: 2 May 2024, 9:24 a.m.

Panel Version: 5.2

Comment on list classification: Adding to this panel under the suggestion of Helen Brittain (Genomics England Clinical Team) as this region is associated with limb malformation phenotypes. Enough evidence to rate as Green at the next GMS panel update.
Created: 21 Jul 2023, 1:23 p.m. | Last Modified: 21 Jul 2023, 1:23 p.m.

Panel Version: 4.7

Created: 16 Mar 2022, 1:22 p.m.
Last Modified: 21 Jul 2023, 1:23 p.m.
Copied from panel: Clefting v4.78

Details

ISCA ID

ISCA-37467-Gain

ISCA Region Name

7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain

Chromosome

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