Repeat Disorders

STR: PHPX

Green List (high evidence)

Chromosome: X
GRCh37 Position: 139586482-139586526
GRCh38 Position: 140504317-140504361
Repeated Sequence: GCN
Normal Number of Repeats: < or = 15
Pathogenic Number of Repeats: = or > 22

SOX3 (SRY-box 3)
EnsemblGeneIds (GRCh38): ENSG00000134595
EnsemblGeneIds (GRCh37): ENSG00000134595
OMIM: 313430, Gene2Phenotype
SOX3 is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_005634.2:c.700_702[X]
Sufficient evidence for an association with growth hormone deficiency, however limited evidence for intellectual disability. ID and growth hormone deficiency identified in a single family with 26 Ala repeats (11 Ala expansion). 22 Ala repeats (7 Ala expansion) has been identified in two families with hypopituitarism (without ID). Mouse model demonstrates that mechanism of disease is polyAlanine tract leading to a loss of function of the protein,
Sources: Expert list
Created: 21 Jun 2021, 9:36 a.m.

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

Phenotypes
Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000

Publications

Clinically Relevant

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

Details

Name
PHPX
Chromosome
X
GRCh37 Coordinates
139586482-139586526
GRCh38 Coordinates
140504317-140504361
Repeated Sequence
GCN
Normal Number of Repeats: < or =
15
Pathogenic Number of Repeats: = or >
22
Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123
  • Panhypopituitarism, X-linked MIM#312000
Tags
paediatric-onset
OMIM
313430
Clinvar variants
Variants in SOX3
Penetrance
None
Publications

History Filter Activity

2 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

21 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: phpx has been classified as Green List (High 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: PHPX was added STR: PHPX was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: PHPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: PHPX were set to 12428212; 15800844; 33811808; 23505376; 19654509 Phenotypes for STR: PHPX were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000 Review for STR: PHPX was set to GREEN STR: PHPX was marked as clinically relevant