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  3. RACGAP1
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Red cell disorders

Gene: RACGAP1

Red List (low evidence)
RACGAP1 (Rac GTPase activating protein 1)
EnsemblGeneIds (GRCh38): ENSG00000161800
EnsemblGeneIds (GRCh37): ENSG00000161800
OMIM: 604980, Gene2Phenotype
RACGAP1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single affected individual reported.
Sources: Expert list
Created: 17 Mar 2022, 9:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anaemia, congenital dyserythropoietic, type IIIb, autosomal recessive 619789

Publications

Created: 17 Mar 2022, 9:06 a.m.

Panel version: 1.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Anaemia, congenital dyserythropoietic, type IIIb, autosomal recessive 619789
OMIM
604980
Clinvar variants
Variants in RACGAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: racgap1 has been classified as Red List (Low Evidence).

17 Mar 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RACGAP1 was added gene: RACGAP1 was added to Red cell disorders. Sources: Expert list Mode of inheritance for gene: RACGAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RACGAP1 were set to 34818416 Phenotypes for gene: RACGAP1 were set to Anaemia, congenital dyserythropoietic, type IIIb, autosomal recessive 619789 Review for gene: RACGAP1 was set to RED