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  3. IQCB1
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Syndromic Retinopathy

Gene: IQCB1

Green List (high evidence)
IQCB1 (IQ motif containing B1)
EnsemblGeneIds (GRCh38): ENSG00000173226
EnsemblGeneIds (GRCh37): ENSG00000173226
OMIM: 609237, Gene2Phenotype
IQCB1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

LCA and nephronophthisis, more than 20 unrelated families reported.
Created: 4 Jul 2021, 5:28 a.m. | Last Modified: 4 Jul 2021, 5:28 a.m.
Panel Version: 0.169

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Senior-Loken syndrome 5, MIM# 609254; MONDO:0012225

Publications

Created: 4 Jul 2021, 5:28 a.m.
Last Modified: 4 Jul 2021, 5:28 a.m.
Panel version: 0.169

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Leber congenital amaurosis
  • Senior-Loken syndrome 5, MIM# 609254
  • MONDO:0012225
OMIM
609237
Clinvar variants
Variants in IQCB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: iqcb1 has been classified as Green List (High Evidence).

4 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IQCB1 were changed from Leber congenital amaurosis; Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis) to Leber congenital amaurosis; Senior-Loken syndrome 5, MIM# 609254; MONDO:0012225

4 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IQCB1 were set to

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: IQCB1 was added gene: IQCB1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IQCB1 were set to Leber congenital amaurosis; Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis)