LMBRD2

protein-coding

LMBR1 domain containing 2, the group of MicroRNA protein coding host genes

Gene summary

Involved in adrenergic receptor signaling pathway. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001007527.2

Inheritance

ClinVar variants

P:11U:133B:19

Top phenotype

Developmental delay with variable neurologic and brain abnormalities

gnomAD constraint

pLI —, LoF o/e 0.35

Max pathogenic AF

—

Genomic locus

chr5:36,098,407-36,151,887

External References & Databases

Ensembl (ENSG00000164187)

Transcript & Mutation Effects

hg38 • Region Span ~53.5 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

developmental delay with variable neurologic and brain abnormalitiesSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0859218

Submitter: PanelApp Australia

complex neurodevelopmental disorderNO_KNOWN

Inheritance Pattern: AD

Disease ID:MONDO:0100038

Submitter: Illumina

developmental delay with variable neurologic and brain abnormalitiesMODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0859218

Submitter: Ambry Genetics

developmental delay with variable neurologic and brain abnormalitiesLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0859218

Submitter: G2P

neurodevelopmental disorder with microcephaly and dysmorphic faciesMODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0032942

Submitter: Franklin by Genoox

10 individuals with a broad spectrum of neurodevelopmental phenotypes underwent DNA examination which revealed LMBRD2 gene de novo variants. http://dx.doi.org/10.1136/jmedgenet-2020-107137

developmental delay with variable neurologic and brain abnormalitiesSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0859218

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Developmental delay with variable neurologic and brain abnormalitiesAD

Manifestation: Craniofacial; Neurologic; Ophthalmologic

Intervention: General

Rationale: 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

Refs: 32820033

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to LMBRD2 variants in ClinVar

12 Conditions Cataloged

Inborn genetic diseasesTotal: 74

not providedTotal: 62

Developmental delay with variable neurologic and brain abnormalitiesTotal: 24

LMBRD2-related disorderTotal: 16

not specifiedTotal: 4

Neurodevelopmental disorderTotal: 3

Motor delayTotal: 1

Dysmorphic featuresTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001007527.2. 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	5 clinvar	3 clinvar	10
missense	1 clinvar	10 clinvar	119 clinvar	10 clinvar	1 clinvar	141
nonsense			2 clinvar			2
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	1	10	133	15	4	163

Highest pathogenic variant AF is 6.896628e-7

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001007527.2	RefSeq	NP_001007528.1	17	MANE Select
ENST00000296603.5	Ensembl	ENSP00000296603.4	17	MANE Select
ENST00000885486.1	Ensembl	ENSP00000555545.1	17	Standard
ENST00000885486.2	Ensembl	ENSP00000555545.1	17	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000296603
Coding exons: 17
Length: 53550
Individuals with no LoFs: 125713
Homozygous LoFs: 0
Heterozygous LoFs: 33
Defined: 125746
p: 0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.27	241	363	0.664	0.0000184	4574
Missense (PolyPhen)		81	150.93	0.53666		1912
Synonymous	0.849	108	120	0.901	0.00000577	1257
Loss of Function	3.81	14	40.0	0.350	0.00000205	514

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000063	0.000062	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.000067	0.000054	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00021	0.00020	rare
South Asian	0.00010	0.000098	rare
Other	0.00034	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.334
RVIS EVS: -0.4
RVIS percentile EVS: 26.73

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.462

Gene Damage Prediction

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