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GMS Musculoskeletal specialist test group Skeletal dysplasia

Region: ISCA-37441-Loss

11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss

Red List (low evidence)
Chromosome: 11
GRCh38 Position: 43873250-46130899
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

Eleanor Williams (Genomics England Curator)

This region was part of an initial list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Region submitted: ISCA-37441-Loss; Initial rating suggestion: none given
Sources: Expert list
Created: 6 Mar 2019, 2:06 p.m.

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

Phenotypes
Potocki-Shaffer syndrome; multiple exostoses; biparietal foramina; intellectual disability; strabismus; minor craniofacial anomalies; myopia; ophthalmologic anomalies; 601224; mental retardation; enlarged anterior fontanel; genital abnormalities in males; parietal foramina; developmental delay

Publications

Created: 6 Mar 2019, 2:06 p.m.

Panel version: 0.8

Details

ISCA ID
ISCA-37441-Loss
ISCA Region Name
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
Chromosome
11
GRCh38 Coordinates
43873250-46130899
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
  • NHS GMS
  • Expert list
Phenotypes
  • Potocki-Shaffer syndrome
  • multiple exostoses
  • biparietal foramina
  • intellectual disability
  • strabismus
  • minor craniofacial anomalies
  • myopia
  • ophthalmologic anomalies
  • 601224
  • mental retardation
  • enlarged anterior fontanel
  • genital abnormalities in males
  • parietal foramina
  • developmental delay
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

7 Mar 2019, Gel status: 1

Changed Triplosensitivity Score, Added New Source

Eleanor Williams (Genomics England Curator)

Triplosensitivity Score for ISCA-37441-Loss was changed from None to . Source NHS GMS was added to Region: ISCA-37441-Loss.

7 Mar 2019, Gel status: 1

Changed GRCh38

Eleanor Williams (Genomics England Curator)

GRCh38 position for ISCA-37441-Loss was changed from 43873246-46130899 to 43873250-46130899.

6 Mar 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

Region: ISCA-37441-Loss was added Region: ISCA-37441-Loss was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: Expert list Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37441-Loss were set to 15852040; 16319823; 20140962 Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome; multiple exostoses; biparietal foramina; intellectual disability; strabismus; minor craniofacial anomalies; myopia; ophthalmologic anomalies; 601224; mental retardation; enlarged anterior fontanel; genital abnormalities in males; parietal foramina; developmental delay