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Repeat Disorders

STR: HPE5

Green List (high evidence)
Chromosome: 13
GRCh37 Position: 100637703-100637747
GRCh38 Position: 99985449-99985493
Repeated Sequence: GCN
Normal Number of Repeats: < 15
Pathogenic Number of Repeats: = or > 25

ZIC2 (Zic family member 2)
EnsemblGeneIds (GRCh38): ENSG00000043355
EnsemblGeneIds (GRCh37): ENSG00000043355
OMIM: 603073, Gene2Phenotype
ZIC2 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_007129.5(ZIC2):c.1366GCN[X]
Mechanism of disease is polyAlanine tract leading to a loss of function of the protein
Normal repeat number: 15
Pathogenic repeat number: 25
Sources: Expert list
Created: 20 Jun 2021, 6:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly 5 MIM#609637

Publications

Clinically Relevant

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

Created: 20 Jun 2021, 6:42 a.m.

Panel version: 0.35

Details

Name
HPE5
Chromosome
13
GRCh37 Coordinates
100637703-100637747
GRCh38 Coordinates
99985449-99985493
Repeated Sequence
GCN
Normal Number of Repeats: <
15
Pathogenic Number of Repeats: = or >
25
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Holoprosencephaly 5 MIM#609637
Tags
paediatric-onset
OMIM
603073
Clinvar variants
Variants in ZIC2
Penetrance
None
Publications

History Filter Activity

1 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag paediatric-onset tag was added to STR: HPE5.

20 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: hpe5 has been classified as Green List (High Evidence).

20 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: hpe5 has been classified as Green List (High Evidence).

20 Jun 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: HPE5 was added STR: HPE5 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: HPE5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: HPE5 were set to 11285244; 33811808 Phenotypes for STR: HPE5 were set to Holoprosencephaly 5 MIM#609637 Review for STR: HPE5 was set to GREEN STR: HPE5 was marked as clinically relevant