TMEM151A

transmembrane protein 151A

Basic information

Region (hg38): 11:66291893-66296664

Previous symbols: [ "TMEM151" ]

Links

ENSG00000179292 ∙ NCBI:256472 ∙ OMIM:620108 ∙ HGNC:28497 ∙ Uniprot:Q8N4L1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• episodic kinesigenic dyskinesia 3 (Moderate), mode of inheritance: AD
• episodic kinesigenic dyskinesia 3 (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Episodic kinesigenic dyskinesia 3	AD	General	The condition involves episodic involuntary movements, and medical management (eg, with carbamazepine or lamotrigine) has been described as beneficial	Neurologic	34518509; 34820915; 34970790; 35727387; 35587630

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TMEM151A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM151A 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						0
missense			30	2		32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	2	0

Variants in TMEM151A

This is a list of pathogenic ClinVar variants found in the TMEM151A region.

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

Position	Type	Phenotype	Significance	ClinVar
11-66292023-G-A		Inborn genetic diseases	Uncertain significance (Nov 17, 2022)
11-66292033-G-A		TMEM151A-related disorder	Likely benign (Apr 27, 2023)
11-66292063-C-G		Inborn genetic diseases	Uncertain significance (Mar 15, 2024)
11-66294386-T-C			Uncertain significance (Nov 24, 2023)
11-66294412-G-C		Episodic kinesigenic dyskinesia 3	Pathogenic (Oct 04, 2023)
11-66294418-G-A		Inborn genetic diseases	Uncertain significance (Dec 01, 2022)
11-66294440-C-T		Inborn genetic diseases	Uncertain significance (Jan 11, 2023)
11-66294493-G-A		Inborn genetic diseases	Uncertain significance (Sep 29, 2022)
11-66294497-G-A		Inborn genetic diseases	Uncertain significance (Dec 02, 2022)
11-66294511-T-C		Inborn genetic diseases	Uncertain significance (Feb 14, 2023)
11-66294621-C-A		Episodic kinesigenic dyskinesia 3	Pathogenic (Feb 15, 2023)
11-66294656-C-A		Inborn genetic diseases	Uncertain significance (Oct 06, 2021)
11-66294721-G-A		Inborn genetic diseases	Uncertain significance (Dec 15, 2023)
11-66294728-G-A		Inborn genetic diseases	Uncertain significance (May 10, 2024)
11-66294757-G-A		Inborn genetic diseases	Uncertain significance (Jan 10, 2023)
11-66294852-C-CA		Episodic kinesigenic dyskinesia 3	Pathogenic (Oct 04, 2023)
11-66294882-G-C		Inborn genetic diseases	Likely benign (Apr 07, 2023)
11-66294968-G-A		Inborn genetic diseases	Uncertain significance (Oct 26, 2022)
11-66295004-T-C		Episodic kinesigenic dyskinesia 3	Pathogenic (Feb 15, 2023)
11-66295019-G-A		Inborn genetic diseases	Uncertain significance (Oct 17, 2023)
11-66295037-T-C		Episodic kinesigenic dyskinesia 3	Pathogenic (Oct 04, 2023)
11-66295057-A-C		Inborn genetic diseases	Uncertain significance (Dec 17, 2023)
11-66295061-T-C		TMEM151A-related disorder	Uncertain significance (Feb 23, 2023)
11-66295066-G-A		Inborn genetic diseases	Uncertain significance (Mar 06, 2023)
11-66295133-TGTCGTGGCCCCTGCGC-T		Episodic kinesigenic dyskinesia 3	Pathogenic (Feb 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM151A	protein_coding	protein_coding	ENST00000327259	2	4795

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00292	0.947	124639	0	11	124650	0.0000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.67	179	311	0.575	0.0000244	2849
Missense in Polyphen		54	131.68	0.4101		1236
Synonymous	2.77	114	158	0.720	0.0000141	1008
Loss of Function	1.71	6	12.6	0.478	5.40e-7	135

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000873	0.0000873
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000603	0.0000537
Middle Eastern	0.000111	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.355
• hipred: Y
• hipred_score: 0.574
• ghis: 0.608

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.612

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem151a

Gene ontology

• Cellular component: integral component of membrane