MYO1H

myosin IH, the group of Myosin heavy chains, class I

Basic information

Region (hg38): 12:109347899-109455523

Links

ENSG00000174527 ∙ NCBI:283446 ∙ OMIM:614636 ∙ HGNC:13879 ∙ Uniprot:Q8N1T3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• congenital central hypoventilation syndrome (Supportive), mode of inheritance: AD
• central hypoventilation syndrome, congenital, 2, and autonomic dysfunction (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction	AR	Neurologic	The condition has been described as involving a lack of ventilatory response to high carbon dioxide levels, and interventions for respiratory support, including tracheostomy, have been reported as necessary	Neurologic	28779001

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYO1H gene.

• Inborn genetic diseases (55 variants)
• not provided (12 variants)
• Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO1H gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			54	6	4	64
nonsense						0
start loss						0
frameshift			1	1		2
inframe indel				1		1
splice donor/acceptor (+/-2bp)		1	1			2
splice region						0
non coding					1	1
Total	0	1	56	8	6

Highest pathogenic variant AF is 0.0000197

Variants in MYO1H

This is a list of pathogenic ClinVar variants found in the MYO1H region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-109388735-C-T			Likely benign (Oct 23, 2018)
12-109388790-C-A		not specified	Uncertain significance (Dec 07, 2021)
12-109388821-C-T		not specified	Uncertain significance (Oct 29, 2021)
12-109388822-G-A		not specified	Uncertain significance (Jan 19, 2024)
12-109393367-T-C		not specified	Uncertain significance (Aug 14, 2023)
12-109393391-G-A		not specified	Uncertain significance (Jun 06, 2022)
12-109396403-G-A		not specified	Uncertain significance (Aug 16, 2021)
12-109396410-G-A		not specified	Uncertain significance (Apr 20, 2023)
12-109396466-G-T		not specified	Uncertain significance (Jan 03, 2024)
12-109396482-C-T		not specified	Uncertain significance (Aug 30, 2022)
12-109396548-G-A		not specified	Uncertain significance (Jan 16, 2024)
12-109397747-A-G		not specified	Uncertain significance (Jan 10, 2023)
12-109397751-C-T		not specified	Uncertain significance (Dec 14, 2023)
12-109397757-G-A		not specified	Uncertain significance (Oct 12, 2022)
12-109401102-G-A		not specified	Uncertain significance (Nov 30, 2022)
12-109401121-G-T			Benign/Likely benign (Dec 01, 2022)
12-109401139-C-A		not specified	Uncertain significance (Jul 26, 2022)
12-109401142-G-A		not specified	Uncertain significance (Nov 27, 2023)
12-109401159-G-A		not specified	Uncertain significance (Oct 22, 2021)
12-109401190-A-C		not specified	Uncertain significance (May 04, 2023)
12-109401207-G-A		not specified	Uncertain significance (Dec 16, 2023)
12-109401237-G-C		not specified	Uncertain significance (Jan 27, 2022)
12-109404042-G-A		not specified	Uncertain significance (Feb 05, 2024)
12-109404049-C-G			Benign (Dec 31, 2019)
12-109405946-G-C		not specified	Uncertain significance (Apr 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO1H	protein_coding	protein_coding	ENST00000310903	31	107621

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.06e-25	0.129	124366	0	290	124656	0.00116

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.652	520	564	0.923	0.0000326	6674
Missense in Polyphen		196	223.42	0.87726		2610
Synonymous	0.719	202	215	0.938	0.0000130	1884
Loss of Function	1.80	47	62.3	0.754	0.00000324	762

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00176	0.00173
Ashkenazi Jewish	0.00193	0.00189
East Asian	0.00179	0.00178
Finnish	0.000512	0.000511
European (Non-Finnish)	0.000980	0.000965
Middle Eastern	0.00179	0.00178
South Asian	0.00248	0.00229
Other	0.00184	0.00182

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity). {ECO:0000250}.

Intolerance Scores

• loftool: 0.368
• rvis_EVS: -0.55
• rvis_percentile_EVS: 20

Haploinsufficiency Scores

• pHI: 0.182
• hipred: N
• hipred_score: 0.229
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.166

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Myo1h
• Phenotype: growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Cellular component: myosin complex
• Molecular function: motor activity;actin binding;ATP binding