Curated summary · agent-written · kb/genes/curated/hgnc_9453.md

All 15 claims checked against the KB draft

PRODH across dismech

PRODH (proline dehydrogenase 1) is named by 2 disorder entries.

Normal function

ai-gene-review gives PRODH's core molecular functions as FAD binding; and proline dehydrogenase activity, acting in L-proline catabolic process at the mitochondrial inner membrane; and mitochondrial matrix. The upstream review is being completed; the ingest snapshot shown here predates that pass.

Causative record

One entry types PRODH as causative: Hyperprolinemia Type 1, and it records the variants as germline. ClinGen rates the gene definitive for this disease. The gene sits on the node PRODH Proline Dehydrogenase Deficiency.

Contiguous-gene context

PRODH lies in the 22q11.2 deletion interval, and 22q11.2 Deletion Syndrome names it on a pathophysiology node without a genetic record of its own; there it appears on Candidate cortical and neurotransmitter mechanisms, a node the entry itself labels as a candidate mechanism.

Where the layers agree

ClinGen classifies PRODH for 1 disease, and no dismech entry matched to it leaves the gene untyped (0). The KB's PRODH nodes and ai-gene-review share the GO process L-proline catabolic process by exact identifier.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

Normal function · from ai-gene-review (O43272, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

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
Hyperprolinemia Type 1	causative germline CLINGEN: definitive	mechanism: PRODH Proline Dehydrogenase Deficiency
22q11.2 Deletion Syndrome	no genetic record	mechanism: Candidate cortical and neurotransmitter mechanisms

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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
hyperprolinemia type 1 MONDO:0009400	AR	Definitive 2021-04-27	Hyperprolinemia Type 1 causative