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Intellectual disability

Region: ISCA-37396-Loss

15q24 recurrent region (A-D) (includes SIN3A) Loss

Green List (high evidence)

Chromosome: 15
GRCh38 Position: 72671374-75680568
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Sources: Expert list
Created: 24 Jan 2019, 1:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Chromosome 15q24 deletion syndrome, 613406; PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology; developmental delay, severe speech problems; PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features; PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia

Publications

Details

ISCA ID
ISCA-37396-Loss
ISCA Region Name
15q24 recurrent region (A-D) (includes SIN3A) Loss
Chromosome
15
GRCh38 Coordinates
72671374-75680568
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Chromosome 15q24 deletion syndrome, 613406
  • PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology
  • developmental delay, severe speech problems
  • PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features
  • PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

25 Jan 2019, Gel status: 3

Changed Triplosensitivity Score, Status Update

Louise Daugherty (Genomics England Curator)

Triplosensitivity Score for ISCA-37396-Loss was changed from 1 to None. Rating Changed from Green List (high evidence) to Green List (high evidence)

24 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Region: isca-37396-loss has been classified as Green List (High Evidence).

24 Jan 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Region: isca-37396-loss has been classified as Red List (Low Evidence).

24 Jan 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

Region: ISCA-37396-Loss was added Region: ISCA-37396-Loss was added to Intellectual disability. Sources: Expert list Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321 Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, 613406; PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology; developmental delay, severe speech problems; PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features; PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia Review for Region: ISCA-37396-Loss was set to GREEN