Genes associated with “HYRPRO1”

Diagnostic yield calculator →

50 genes foundOpen Targets: hyperprolinemia type 1

How are genes scored? (0–100 composite)

-5–15

ClinGen

0–15

HPO Freq

0–15

Open Targets

0–12

Phen2Gene

0–10

ClinVar

0–8

Constraint

0–8

Dosage

0–8

OMIM CS

0–8

PanelApp

0–5

OMIM

0–5

G2P

0–4

Breadth

Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)

Evidence dots:

HPOClinVarPhen2GeneOpen TargetsPanelApp

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Strong Candidates

1 gene

1

proline dehydrogenase 1

29

score

ClinGen: DefinitiveGTR ↑

{Schizophrenia, susceptibility to, 4}

Frequency

-

P/LP Variants

47

OT Score

0.82

Consider

7 genes

Score

Gene

Evidence

Freq

P/LP

OT

Description

DiGeorge syndrome critical region gene 6

16

-

3

0.44

DiGeorge syndrome critical region gene 6

HYPERPROLINEMIA, TYPE I; HYRPRO1

13

-

-

-

HYPERPROLINEMIA, TYPE I; HYRPRO1

Def

sodium voltage-gated channel alpha subunit 8

12

-

-

0.06

sodium voltage-gated channel alpha subunit 8

Def

Cl-/H+ antiporter 5

10

-

-

0.08

Cl-/H+ antiporter 5

calcium voltage-gated channel subunit alpha1 A

10

-

-

0.07

calcium voltage-gated channel subunit alpha1 A

10

-

7

-

-

Def

laminin subunit alpha 5

8

-

-

0.07

laminin subunit alpha 5

Possible

17 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

OT

Description

DefSF

HNF1 homeobox A

8

HNF1ADefSF

-

-

0.06

HNF1 homeobox A

DefSF

ornithine transcarbamylase

6

OTCDefSF

-

-

0.07

ornithine transcarbamylase

Def

solute carrier family 7 member 9

4

-

-

0.08

solute carrier family 7 member 9

Def

uromodulin

4

-

-

0.08

uromodulin

Def

solute carrier family 3 member 1

4

-

-

0.08

solute carrier family 3 member 1

Def

solute carrier family 12 member 1

4

-

-

0.07

solute carrier family 12 member 1

4

-

1

-

-

Def

alanine--glyoxylate aminotransferase

4

-

-

0.06

alanine--glyoxylate aminotransferase

Def

collagen type IV alpha 3 chain

4

-

-

0.06

collagen type IV alpha 3 chain

Def

methylmalonyl-CoA mutase

4

-

-

0.06

methylmalonyl-CoA mutase

Def

ATPase phospholipid transporting 8A2

4

-

-

0.06

ATPase phospholipid transporting 8A2

Def

aldehyde dehydrogenase 5 family member A1

4

-

-

0.06

aldehyde dehydrogenase 5 family member A1

Def

prosaposin

4

-

-

0.06

prosaposin

Def

collagen type IV alpha 4 chain

4

-

-

0.06

collagen type IV alpha 4 chain

Def

POU class 3 homeobox 3

4

-

-

0.06

POU class 3 homeobox 3

Def

dystonin

4

DSTDef

-

-

0.06

dystonin

Def

insulin receptor

4

-

-

0.06

insulin receptor

Related phenotype searches

Intellectual disability Global developmental delay Speech/language delay Neurodegeneration Developmental regression Seizures Epileptic encephalopathy Status epilepticus

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.