WDR83OS

protein-coding

WD repeat domain 83 opposite strand

Gene summary

Enables protein folding chaperone. Involved in multi-pass transmembrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of multi-pass translocon complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C19orf56

MANE transcript

NM_016145.4

Inheritance

ClinVar variants

P:7U:15B:8

Top phenotype

Neurodevelopmental disorder with variable familial hypercholanemia

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chr19:12,668,073-12,669,415

External References & Databases

Ensembl (ENSG00000105583)

Transcript & Mutation Effects

hg38 • Region Span ~1.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

neurodevelopmental disorder with variable familial hypercholanemiaMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0975877

Submitter: G2P

neurodevelopmental disorder with variable familial hypercholanemiaSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0975877

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Neurodevelopmental disorder with variable familial hypercholanemiaAR

Manifestation: Craniofacial; Gastrointestinal; Musculoskeletal; Neurologic

Intervention: Gastrointestinal

Rationale: The condition can include pruritus and hepatic dysfunction, including hypercholanemia, and awareness may enable medical management

Refs: 30250217; 39471804

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to WDR83OS variants in ClinVar

6 Conditions Cataloged

not providedTotal: 19

not specifiedTotal: 10

Hypercholanemia, familialTotal: 5

Neurodevelopmental disorder with variable familial hypercholanemiaTotal: 4

WDR83OS-related conditionTotal: 2

Neurodevelopmental disorder with seizures and speech and walking impairmentTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016145.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	6 clinvar	1 clinvar	8
missense			12 clinvar	1 clinvar		13
nonsense	2 clinvar	1 clinvar				3
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)	3 clinvar	1 clinvar	1 clinvar			5
Total	5	2	15	7	1	30

Highest pathogenic variant AF is 0.0000041044386

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016145.4	RefSeq	NP_057229.1	4	MANE Select
ENST00000596731.7	Ensembl	ENSP00000468969.1	4	MANE Select
ENST00000222190.9	Ensembl	ENSP00000222190.5	4	Standard
ENST00000598732.1	Ensembl	ENSP00000471797.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000596731
Coding exons: 4
Length: 3286
Individuals with no LoFs: 125722
Homozygous LoFs: 0
Heterozygous LoFs: 12
Defined: 125734
p: 0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.700	50	66.0	0.757	0.00000346	702
Missense (PolyPhen)		20	28.747	0.69573		314
Synonymous	0.214	25	26.4	0.947	0.00000156	178
Loss of Function	0.479	4	5.18	0.773	2.19e-7	60

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00054	0.00054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.118

Intolerance Scores

RVIS EVS: 0.17
RVIS percentile EVS: 65.33

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low