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  2. Hydrops fetalis
  3. IFT122
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Hydrops fetalis

Gene: IFT122

Red List (low evidence)
IFT122 (intraflagellar transport 122)
EnsemblGeneIds (GRCh38): ENSG00000163913
EnsemblGeneIds (GRCh37): ENSG00000163913
OMIM: 606045, Gene2Phenotype
IFT122 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single case report of a presentation consistent with the severe ciliopathy Beemer-Langer syndrome, and mild generalised oedema identified antenatally.
Sources: Expert list
Created: 21 Aug 2020, 8:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Beemer-Langer syndrome

Publications

Created: 21 Aug 2020, 8:50 a.m.

Panel version: 0.167

History Filter Activity

21 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift122 has been classified as Red List (Low Evidence).

21 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IFT122 was added gene: IFT122 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT122 were set to 28370949 Phenotypes for gene: IFT122 were set to Beemer-Langer syndrome Review for gene: IFT122 was set to RED