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Repeat Disorders

STR: MEDPSACH

Green List (high evidence)
Chromosome: 19
GRCh37 Position: 18896844-18896859
GRCh38 Position: 18786034-18786049
Repeated Sequence: GAC
Normal Number of Repeats: < 5
Pathogenic Number of Repeats: = or > 6

COMP (cartilage oligomeric matrix protein)
EnsemblGeneIds (GRCh38): ENSG00000105664
EnsemblGeneIds (GRCh37): ENSG00000105664
OMIM: 600310, Gene2Phenotype
COMP is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 5 cases reported with 6 or 7 GAC repeats. 5 repeats is normal. Deletion/contraction of the repeat is also reported. Other SNV and small indels are reported as disease-causing in this gene.
Sources: Literature
Created: 5 Sep 2021, 3:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epiphyseal dysplasia, multiple, 1 MIM#132400; Pseudoachondroplasia MIM#177170

Publications

Variants in this STR are reported as part of current diagnostic practice

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 5 Sep 2021, 3:08 a.m.

Panel version: 0.125

Details

Name
MEDPSACH
Chromosome
19
GRCh37 Coordinates
18896844-18896859
GRCh38 Coordinates
18786034-18786049
Repeated Sequence
GAC
Normal Number of Repeats: <
5
Pathogenic Number of Repeats: = or >
6
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epiphyseal dysplasia, multiple, 1 MIM#132400
  • Pseudoachondroplasia MIM#177170
Tags
paediatric-onset
OMIM
600310
Clinvar variants
Variants in COMP
Penetrance
None
Publications

History Filter Activity

7 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag paediatric-onset tag was added to STR: MEDPSACH.

5 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: medpsach has been classified as Green List (High Evidence).

5 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: medpsach has been classified as Green List (High Evidence).

5 Sep 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: MEDPSACH was added STR: MEDPSACH was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: MEDPSACH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: MEDPSACH were set to 9887340; 17133256; 21922596 Phenotypes for STR: MEDPSACH were set to Epiphyseal dysplasia, multiple, 1 MIM#132400; Pseudoachondroplasia MIM#177170 Review for STR: MEDPSACH was set to GREEN STR: MEDPSACH was marked as clinically relevant STR: MEDPSACH was marked as current diagnostic