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Repeat Disorders

STR: CCD

Amber List (moderate evidence)
Chromosome: 6
GRCh37 Position: 45390488-45390538
GRCh38 Position: 45422751-45422801
Repeated Sequence: GCN
Normal Number of Repeats: < 18
Pathogenic Number of Repeats: = or > 20

RUNX2 (runt related transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000124813
EnsemblGeneIds (GRCh37): ENSG00000124813
OMIM: 600211, Gene2Phenotype
RUNX2 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

NM_001024630.4(RUNX2):c.231_233[x]
Expected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein.
Only identified 2 reported polyAla repeat expansions in the literature. One family reported with 27 Ala repeats and one case reported with 20 Ala repeats (with supporting in vitro functional assay evidence). Also at least one case reported with expansion of the upstream glutamine repeat.
Sources: Expert list
Created: 21 Jun 2021, 8:56 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cleidocranial dysplasia MIM#119600

Publications

Created: 21 Jun 2021, 8:56 p.m.

Panel version: 0.46

Details

Name
CCD
Chromosome
6
GRCh37 Coordinates
45390488-45390538
GRCh38 Coordinates
45422751-45422801
Repeated Sequence
GCN
Normal Number of Repeats: <
18
Pathogenic Number of Repeats: = or >
20
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Cleidocranial dysplasia MIM#119600
Tags
paediatric-onset
OMIM
600211
Clinvar variants
Variants in RUNX2
Penetrance
None
Publications

History Filter Activity

10 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Str: ccd has been classified as Amber List (Moderate Evidence).

10 Sep 2021, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: ccd has been classified as Amber List (Moderate Evidence).

21 Jun 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: CCD was added STR: CCD was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: CCD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: CCD were set to 9182765; 33811808; 20560987; 26220009; 25852448 Phenotypes for STR: CCD were set to Cleidocranial dysplasia MIM#119600 Review for STR: CCD was set to AMBER