Intellectual disability
Region: ISCA-37443-Loss
3q29 recurrent region (includes DLG1) Loss

Chromosome: 3
GRCh38 Position: 196029183-197617791
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)

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, 1:11 p.m. | Last Modified: 16 Mar 2022, 1:11 p.m.

Panel Version: 3.1520

Created: 16 Mar 2022, 1:11 p.m.
Last Modified: 16 Mar 2022, 1:11 p.m.
Panel version: 3.1520

Details

ISCA ID

ISCA-37443-Loss

ISCA Region Name

3q29 recurrent region (includes DLG1) Loss

Chromosome

GRCh38 Coordinates

196029183-197617791

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

Expert Review Green
ClinGen

Phenotypes

. mild to moderate mental retardation, with only slightly dysmorphic facial features that were similar in most patients: long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest wall deformity, and long and tapering fingers were noted in at least 2 of the 6 patients. delayed psychomotor development with mild to moderate mental retardation and/or learning disabilities with speech delay. All had low birth weight, microcephaly, high nasal bridge, and short philtrum, and 3 had clinodactyly of the toes. primary pulmonary hypertension, patent ductus arteriosus (PDA), subvalvular aortic stenosis, and gastroesophageal reflux, and required neonatal intensive care for 57 days after birth due to complications of meconium aspiration. He had mild dysmorphic features, including posteriorly rotated ears, shallow orbits, frontal bossing, prominent nose, long thin lip, and broad face. He also had bilateral sandal gap toes, single palmar creases, and bilateral inguinal hernia. However, he was developmentally normal at age 6 months. delayed psychomotor development with delayed waking and poor motor skills, autism with speech delay, mental retardation, and psychiatric disturbances, including aggression, anxiety, hyperactivity, and bipolar disorder with psychosis in 1. Both had dysmorphic features, including high nasal bridge, asymmetric face, and crowded/dysplastic teeth
1 had micrognathia and epicanthal folds. Both had tapered fingers. 609425
Chromosome 3q29 microdeletion syndrome

Clinvar variants

Variants in

Penetrance

None

Variant types

CNV Loss

History Filter Activity

16 Mar 2022, Gel status: 3

Changed GRCh38, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-37443-Loss was changed from 196029183-197617794 to 196029183-197617791. Required Overlap Percentage for ISCA-37443-Loss was changed from 80 to 60.

7 Sep 2018, Gel status: 4

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

Louise Daugherty (Genomics England Curator)

Region: ISCA-37443-Loss was added Region: ISCA-37443-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37443-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37443-Loss were set to . mild to moderate mental retardation, with only slightly dysmorphic facial features that were similar in most patients: long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest wall deformity, and long and tapering fingers were noted in at least 2 of the 6 patients. delayed psychomotor development with mild to moderate mental retardation and/or learning disabilities with speech delay. All had low birth weight, microcephaly, high nasal bridge, and short philtrum, and 3 had clinodactyly of the toes. primary pulmonary hypertension, patent ductus arteriosus (PDA), subvalvular aortic stenosis, and gastroesophageal reflux, and required neonatal intensive care for 57 days after birth due to complications of meconium aspiration. He had mild dysmorphic features, including posteriorly rotated ears, shallow orbits, frontal bossing, prominent nose, long thin lip, and broad face. He also had bilateral sandal gap toes, single palmar creases, and bilateral inguinal hernia. However, he was developmentally normal at age 6 months. delayed psychomotor development with delayed waking and poor motor skills, autism with speech delay, mental retardation, and psychiatric disturbances, including aggression, anxiety, hyperactivity, and bipolar disorder with psychosis in 1. Both had dysmorphic features, including high nasal bridge, asymmetric face, and crowded/dysplastic teeth; 1 had micrognathia and epicanthal folds. Both had tapered fingers. 609425; Chromosome 3q29 microdeletion syndrome

Intellectual disability Region: ISCA-37443-Loss 3q29 recurrent region (includes DLG1) Loss