Repeat Disorders
STR: PHPXGRCh37 Position: 139586482-139586526
GRCh38 Position: 140504317-140504361
Repeated Sequence: GCN
Normal Number of Repeats: < 15
Pathogenic Number of Repeats: = or > 22
SOX3 (SRY-box 3)
EnsemblGeneIds (GRCh38): ENSG00000134595
EnsemblGeneIds (GRCh37): ENSG00000134595
OMIM: 313430, Gene2Phenotype
SOX3 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 listCreated: 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 RelevantInterruptions 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: <
- 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
- OMIM
- 313430
- Clinvar variants
- Variants in SOX3
- Penetrance
- None
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag paediatric-onset tag was added to STR: PHPX.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: phpx has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: phpx has been classified as Green List (High Evidence).
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