HYDIN

Chr 16AR

HYDIN axonemal central pair apparatus protein

Also known as: CILD5, HYDIN1, PPP1R31

NCBI Gene: 54768 ENSG00000157423 UniProt: Q4G0P3 OMIM: 610812

The protein is required for ciliary motility and maintains proper cilia function. Mutations cause autosomal recessive primary ciliary dyskinesia-5, characterized by accumulation of cerebrospinal fluid within the brain ventricles. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.505).

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.511 OMIM phenotype

Clinical Summary— HYDIN

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Gene-Disease Validity (ClinGen)

primary ciliary dyskinesia 5 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

75 unique Pathogenic / Likely Pathogenic· 331 VUS of 628 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.51LOEUF

pLI 0.000

Z-score 7.14

OE 0.42 (0.34–0.51)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.81Z-score

OE missense 0.95 (0.92–0.99)

1990 obs / 2094.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.42 (0.34–0.51)

0≤0.351.4

Missense OE?0.95 (0.92–0.99)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 72 / 173.5Missense obs/exp: 1990 / 2094.3Syn Z: -0.97

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

definitiveHYDIN-related primary ciliary dyskinesiaLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

0.6745th %ile

GOF

0.4578th %ile

LOF

0.3551th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

628 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23

Likely Pathogenic52

VUS331

Likely Benign170

Benign16

Conflicting13

Pathogenic

Likely Pathogenic

331

VUS

170

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	22	1	0	0	23
Likely Pathogenic	49	2	1	0	52
VUS	7	308	12	4	331
Likely Benign	1	56	12	101	170
Benign	1	7	4	4	16
Conflicting	—				13
Total	80	374	29	109	605

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

27 pathogenic / likely-pathogenic (of 57) ClinVar copy-number / structural variants overlap HYDIN — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →