Repeat Disorders
STR: HSAN8GRCh37 Position: 133556993-133557026
GRCh38 Position: 130681606-130681639
Repeated Sequence: GCC
Normal Number of Repeats: < 14
Pathogenic Number of Repeats: = or > 18
PRDM12 (PR/SET domain 12)
EnsemblGeneIds (GRCh38): ENSG00000130711
EnsemblGeneIds (GRCh37): ENSG00000130711
OMIM: 616458, Gene2Phenotype
PRDM12 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
NM_021619.3(PRDM12):c.1041CGC[X]
Poly-Ala repeat, with 7-14 repeats identified in controls. A large consanguineous Pakastani family with HSAN segregating a homozygous expansion from 12 to 19 residues, and an Irish family with HSAN segregating a expansion from 12 to 18 residues. In vitro functional expression studies in COS-7 cells showed that the polyalanine expansions resulted in reduced protein expression and caused discrete, concentrated foci to form in the nucleus and cytoplasm. SNVs also cause disease.
Sources: LiteratureCreated: 5 Sep 2021, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- HSAN8
- Chromosome
- 9
- GRCh37 Coordinates
- 133556993-133557026
- GRCh38 Coordinates
- 130681606-130681639
- Repeated Sequence
- GCC
- Normal Number of Repeats: <
- 14
- Pathogenic Number of Repeats: = or >
- 18
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488
- Tags
- OMIM
- 616458
- Clinvar variants
- Variants in PRDM12
- Penetrance
- None
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag paediatric-onset tag was added to STR: HSAN8.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: hsan8 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: hsan8 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: HSAN8 was added STR: HSAN8 was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: HSAN8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: HSAN8 were set to 26005867 Phenotypes for STR: HSAN8 were set to Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488 Review for STR: HSAN8 was set to GREEN STR: HSAN8 was marked as clinically relevant