MROH6

protein-coding

maestro heat like repeat family member 6, the group of Maestro heat like repeat containing

Gene summary

Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C8orf73

MANE transcript

NM_001100878.2

Inheritance

—

ClinVar variants

U:212B:15

Top phenotype

Autosomal recessive non-syndromic intellectual disability

gnomAD constraint

pLI —, LoF o/e 0.98

Max pathogenic AF

—

Genomic locus

chr8:143,566,192-143,572,772

External References & Databases

Ensembl (ENSG00000204839)

Transcript & Mutation Effects

hg38 • Region Span ~6.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MROH6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 215

Autosomal recessive non-syndromic intellectual disabilityTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001100878.2. 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			2 clinvar	1 clinvar		3
missense			202 clinvar	14 clinvar		216
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	0	0	212	15	0	227

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 34 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001100878.2	RefSeq	NP_001094348.1	14	MANE Select
ENST00000398882.8	Ensembl	ENSP00000381857.3	14	MANE Select
ENST00000524906.5	Ensembl	ENSP00000435528.1	1	Standard
ENST00000529971.1	Ensembl	ENSP00000436959.1	10	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000398882
Coding exons: 14
Length: 6785
Individuals with no LoFs: 123756
Homozygous LoFs: 15
Heterozygous LoFs: 827
Defined: 124598
p: 0.00338

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.661	402	366	1.10	0.0000212	4332
Missense (PolyPhen)		134	115.95	1.1557		1452
Synonymous	-1.56	199	173	1.15	0.0000102	1665
Loss of Function	0.0889	27	27.5	0.982	0.00000143	291

Population LoF Frequency

Population	CAF	p-value	Status
African	0.045	0.043	notable
Latino/Admixed American	0.0027	0.0027	notable
Ashkenazi Jewish	0.00013	0.000099	rare
East Asian	0.0015	0.0014	notable
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00037	0.00035	rare
South Asian	0.00037	0.00036	rare
Other	0.0025	0.0025	notable

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (CRISPR2): E
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High