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Repeat Disorders

STR: EIEE1_tract2

Green List (high evidence)
Chromosome: X
GRCh37 Position: 25031647-25031682
GRCh38 Position: 25013530-25013565
Repeated Sequence: GCN
Normal Number of Repeats: < 12
Pathogenic Number of Repeats: = or > 20

ARX (aristaless related homeobox)
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_139058.3(ARX):c.429GGC[X]
Mechanism of disease is polyAlanine tract associated with dominant-negative effect
PolyAla tract 2 of 2 polyAla tracts associated with disease
Normal repeat number: 12
Pathogenic repeat number: 20
Sources: Expert list
Created: 20 Jun 2021, 7:14 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Developmental and epileptic encephalopathy 1 MIM#308350; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510

Publications

Clinically Relevant

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

Created: 20 Jun 2021, 7:14 a.m.

Panel version: 0.39

Details

Name
EIEE1_tract2
Chromosome
X
GRCh37 Coordinates
25031647-25031682
GRCh38 Coordinates
25013530-25013565
Repeated Sequence
GCN
Normal Number of Repeats: <
12
Pathogenic Number of Repeats: = or >
20
Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 1 MIM#308350
  • Intellectual disability, X-linked 29 and others MIM#300419
  • Partington syndrome MIM#309510
Tags
paediatric-onset
OMIM
300382
Clinvar variants
Variants in ARX
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: EIEE1_tract2.

20 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: eiee1_tract2 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: eiee1_tract2 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: EIEE1_tract2 was added STR: EIEE1_tract2 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: EIEE1_tract2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: EIEE1_tract2 were set to 11889467; 33811808 Phenotypes for STR: EIEE1_tract2 were set to Developmental and epileptic encephalopathy 1 MIM#308350; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510 Review for STR: EIEE1_tract2 was set to GREEN STR: EIEE1_tract2 was marked as clinically relevant