Severe microcephaly
Region: ISCA-46742-Loss
7p22.1 region (includes ACTB) Loss

Chromosome: 7
GRCh38 Position: 5497217-5760091
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

New green region added based on ClinGen Region Curation Results (version on 05 Aug 2022) following NHS Genomic Medicine Service approval. Additional comments: At least 11 cases reported - features include developmental delay, short stature, microcephaly, and other distinctive features.
Created: 2 Feb 2023, 3:23 p.m. | Last Modified: 2 Feb 2023, 3:23 p.m.

Panel Version: 3.6

Created: 2 Feb 2023, 3:23 p.m.
Last Modified: 2 Feb 2023, 3:23 p.m.
Panel version: 3.6

Details

ISCA ID

ISCA-46742-Loss

ISCA Region Name

7p22.1 region (includes ACTB) Loss

Chromosome

GRCh38 Coordinates

5497217-5760091

Haploinsufficiency Score

Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype

Triplosensitivity Score

Required percent of overlap

60%

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

ClinGen
Expert Review Green

Clinvar variants

Variants in

Penetrance

None

Variant types

CNV Loss

Publications

History Filter Activity

2 Feb 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Arina Puzriakova (Genomics England Curator)

Region: ISCA-46742-Loss was added Region: ISCA-46742-Loss was added to Severe microcephaly. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46742-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-46742-Loss were set to 27633570; 32562408; 29274487; 29220674

Severe microcephaly Region: ISCA-46742-Loss 7p22.1 region (includes ACTB) Loss