Aliases: EN-7.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Immunodeficiency 73B | causative |
mechanism: RAC2 Dominant-Activating Missense Variant
|
| Neutrophil Immunodeficiency Syndrome |
untyped
The dominant-negative p.Asp57Asn allele, arising from a G to A change at nucleotide 169 of the coding sequence. Asp57 is invariant in all defined GTP-binding proteins and is directly involved in nucleotide binding.
germline
dominant negative
|
mechanism: RAC2 p.Asp57Asn Dominant-Negative Allele
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| neutrophil immunodeficiency syndrome MONDO:0011988 | AD | Moderate 2021-12-21 |
|
| immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia MONDO:0033554 | AD | Strong 2021-10-19 |
Immunodeficiency 73B
causative
|
| immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia MONDO:0033555 | AR | Moderate 2021-10-19 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.