ERMARD

ER membrane associated RNA degradation

Basic information

Region (hg38): 6:169751622-169781600

Previous symbols: [ "C6orf70" ]

Links

ENSG00000130023 ∙ NCBI:55780 ∙ OMIM:615532 ∙ HGNC:21056 ∙ Uniprot:Q5T6L9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• periventricular nodular heterotopia 6 (Limited), mode of inheritance: AD
• periventricular nodular heterotopia (Supportive), mode of inheritance: AD
• periventricular nodular heterotopia 6 (Limited), mode of inheritance: Unknown
• periventricular nodular heterotopia 6 (Limited), mode of inheritance: AD
• periventricular nodular heterotopia 6 (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Periventricular nodular heterotopia 6	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	24056535

ClinVar

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

• not_provided (196 variants)
• not_specified (139 variants)
• ERMARD-related_disorder (29 variants)
• Periventricular_nodular_heterotopia_6 (23 variants)
• See_cases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERMARD gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018341.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2	44	3	49
missense	1		139	29	6	175
nonsense		1	1			2
start loss						0
frameshift		1	11	2		14
splice donor/acceptor (+/-2bp)		2	7			9
Total	1	4	160	75	9

Highest pathogenic variant AF is 0.0000061565

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERMARD	protein_coding	protein_coding	ENST00000366773	18	29963

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.78e-16	0.320	125370	1	377	125748	0.00150

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.320	384	367	1.05	0.0000203	4410
Missense in Polyphen		96	101.71	0.9439		1268
Synonymous	-0.398	145	139	1.04	0.00000800	1298
Loss of Function	1.44	29	38.6	0.750	0.00000199	464

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00396	0.00396
Ashkenazi Jewish	0.00	0.00
East Asian	0.00119	0.00114
Finnish	0.000231	0.000231
European (Non-Finnish)	0.00167	0.00165
Middle Eastern	0.00119	0.00114
South Asian	0.00122	0.00118
Other	0.00164	0.00163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in neuronal migration during embryonic development. {ECO:0000269|PubMed:24056535}.
• Disease: DISEASE: Periventricular nodular heterotopia 6 (PVNH6) [MIM:615544]: A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy. {ECO:0000269|PubMed:24056535}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Recessive Scores

• pRec: 0.0933

Intolerance Scores

• rvis_EVS: 1.43
• rvis_percentile_EVS: 94.99

Haploinsufficiency Scores

• pHI: 0.158
• hipred: N
• hipred_score: 0.180
• ghis: 0.441

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ermard

Gene ontology

• Biological process: multicellular organism development;biological_process
• Cellular component: endoplasmic reticulum membrane;integral component of membrane
• Molecular function: molecular_function