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Fetal anomalies

Gene: IQCB1

Red List (low evidence)

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

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Red List (low evidence)

Comment when marking as ready: Not associated with fetal anomalies. Marked as RED for fetal anomalies panel
Created: 27 Jan 2022, 11:17 p.m. | Last Modified: 27 Jan 2022, 11:17 p.m.
Panel Version: 0.2840
Not associated with fetal anomalies. Renal failure commonly occurs after second decade. LCA presents in infancy.
Created: 27 Jan 2022, 11:16 p.m. | Last Modified: 27 Jan 2022, 11:16 p.m.
Panel Version: 0.2839

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Senior-Loken syndrome 5 609254
OMIM
609237
Clinvar variants
Variants in IQCB1
Penetrance
None
Panels with this gene

History Filter Activity

27 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: iqcb1 has been classified as Red List (Low Evidence).

27 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: iqcb1 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IQCB1 was added gene: IQCB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5 609254