IDS |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- IDS (HGNC:5389) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- iduronate 2-sulfatase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- SIDS
- Alias symbols
- ID2S
- %HI
- 14.02(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.95(Read more about gnomAD pLI score)
- LOEUF
- 0.32(Read more about gnomAD LOEUF score)
- Cytoband
- Xq28
- Genomic Coordinates
-
GRCh37/hg19: chrX:148558519-148586836 NCBI Ensembl UCSC GRCh38/hg38: chrX:149476988-149505306 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000202.8 ENST00000340855.11 (Read more about MANE Select)
- Function
- Lysosomal enzyme involved in the degradation pathway of dermatan sulfate and heparan sulfate. {ECO:0000269|PubMed:10838181, ECO:0000269|PubMed:11731225, ECO:0000269|PubMed:28593992}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- mucopolysaccharidosis type 2 Monarch
-
PUBMED:
22976768
Pollard et al (2013) describe 218 cases of mucopolysaccharidosis type II (MPSII / Hunter syndrome) patients tested for variants in IDS. The variant spectrum is diverse and includes intergenic inversions and multi-exon deletions. 121 different sequence IDS variants were detected, as well as a common pathogenic inversion and exonic deletions in an additional 15 cases. Testing 102 mothers of MPSII patients showed that 22.5 % of IDS variants were de novo. All coding exons +/- 25bp were PCR amplified and Sanger sequenced. If no variant was detected, allele-specific PCR and/or MLPA were used. The allele-specific PCR detects a common pathogenic inversion between intron 7 of the IDS gene and a region near exon 3 of the IDSP1 pseudogene. MLPA detects CNVs. Reported variants include: 8 stop variants: c.79G>T p.E27* c.361C>T p.Q121* c.495T>G p.Y165* c.1010G>A p.W337* c.1035G>A p.W345* c.1266C>A p.C422* c.1470T>A p.Y490* c.429dupT p.(Asn144*) 20 frameshift variants: c.128_129delTC p.(Ile43Serfs*3) c.219delC p.(Phe74Serfs*56) c.601_602delAG p.(Ser201Hisfs*2) c.632delA p.(Lys211Argfs*2) c.798delC p.(Trp267Glyfs*13) c.817delC p.(Arg273Glyfs*7) c.996delC p.(Ser333Argfs*7) c.1274delC p.(Pro425Leufs*15) c.1377delA p.(Glu459Aspfs*2) c.1411_1412delGA p.(Asp471Hisfs*7) c.314_317dupTCAA p.(Ser107Glnfs*39) c.753dupC p.(Asp252Argfs*6) c.812_813insA p.(Gln272Alafs*70) c.976_979dupAGCA p.(Thr327Lysfs*16) c.1025dupA p.(His342Glnfs*11) c.1141dupC p.(Leu381Profs*5) c.1186_1187insTGCCT p.(Gln396Leufs*46) c.1294_1298dupTGCAG p.(Arg433Serfs*9) c.1362_1365dupTGGT p.(Asn456Trpfs*2) c.514_516delCGAins13 p.(Arg172Glyfs*2) 4 splicing variants: c.104-1G>A c.880-2A>C c.1007-2A>C c.1006+2T>A 15 exonic deletions were also reported, although it is not clear how many of these only involve IDS due to the limitations of MLPA.
-
PUBMED:
24125893
Brusius-Facchin et al (2014) describe 103 South American MPSII patients, tested by Sanger, single-strand conformation polymorphism (SSCP) & PCR amplification. All 103 cases had IDS variants. Sixty-three variants were observed in families with multiple affected individuals. Fifteen of the variants were de novo. 3 whole gene deletions were described, but these were contiguous with other genes. 4 partial gene deletions were also described: exons [5,6,7]x2, [5,6,7,8] & [5,6,7,8,9]. The extent of the last one is unknown, therefore at least 3 deletions include IDS alone. Other described variants include: 4 stop variants: c.241C>T p.Q81* c.327G>A p.W109* c.715C>T p.Q239* c.1608T>A p.Y536* 3 splice variants: c.418G>C c.709-2A>T c.1007G>T 5 frameshift variants: c.155delG p.(Gly52Alafs*8) c.1349_1364del16 p.(Asp450Valfs*6) c.805_808dupGACA p.(Ile270Argfs*73) c.1134_1152dup19 p.(Asp385Profs*7) c.1300_1306dupGAAGGCA p.(Lys436Argfs*13)
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.