Intellectual disability
Region: ISCA-37405-Loss
2q13 recurrent region (includes NPHP1) Loss

Chromosome: 2
GRCh38 Position: 110104531-110228181
Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

1 review

Arina Puzriakova (Genomics England Curator)

The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Created: 16 Mar 2022, 12:56 p.m. | Last Modified: 16 Mar 2022, 12:56 p.m.

Panel Version: 3.1520

Created: 16 Mar 2022, 12:56 p.m.
Last Modified: 16 Mar 2022, 12:56 p.m.
Panel version: 3.1520

Details

ISCA ID

ISCA-37405-Loss

ISCA Region Name

2q13 recurrent region (includes NPHP1) Loss

Chromosome

GRCh38 Coordinates

110104531-110228181

Haploinsufficiency Score

Gene associated with autosomal recessive phenotype

Triplosensitivity Score

Required percent of overlap

60%

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
ClinGen

Phenotypes

juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities
266900
609583

Clinvar variants

Variants in

Penetrance

None

Variant types

CNV Loss

Publications

History Filter Activity

16 Mar 2022, Gel status: 3

Changed GRCh38, Changed Haploinsufficiency Score, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-37405-Loss was changed from 110122329-110205017 to 110104531-110228181. Haploinsufficiency Score for ISCA-37405-Loss was changed from 3 to 30. Required Overlap Percentage for ISCA-37405-Loss 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-37405-Loss was added Region: ISCA-37405-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal Publications for Region: ISCA-37405-Loss were set to 9856524; 15138899; 8852662 Phenotypes for Region: ISCA-37405-Loss were set to juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities; 266900; 609583

Intellectual disability Region: ISCA-37405-Loss 2q13 recurrent region (includes NPHP1) Loss