KIAA0825

Gene

KIAA0825, the group of Armadillo like helical domain containing

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C5orf36

MANE transcript

NM_001145678.3

Inheritance

ClinVar variants

P:13U:58B:19

Top phenotype

Polydactyly, postaxial, type A10

gnomAD constraint

pLI —, LoF o/e 0.96

Max pathogenic AF

—

Genomic locus

chr5:94,150,851-94,618,604

External References & Databases

Ensembl (ENSG00000185261)

Transcript & Mutation Effects

hg38 • Region Span ~467.8 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

polydactyly, postaxial, type a10STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0032785

Submitter: Labcorp Genetics (formerly Invitae)

polydactyly, postaxial, type a10LIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0032785

Submitter: Ambry Genetics

polydactyly, postaxial, type a10STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0032785

Submitter: PanelApp Australia

postaxial polydactyly type ASUPPORTIVE

Inheritance Pattern: AR

Disease ID:MONDO:0019673

Submitter: Orphanet

Clinical Genomic Database (CGD)

Polydactyly, postaxial, type A10AR

Manifestation: Musculoskeletal

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: 30982135

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KIAA0825 variants in ClinVar

8 Conditions Cataloged

not specifiedTotal: 53

KIAA0825-related disorderTotal: 22

Polydactyly, postaxial, type a10Total: 18

not providedTotal: 8

Postaxial polydactylyTotal: 3

KIAA0825-related disordersTotal: 2

Polydactyly, postaxial, type A1Total: 2

Autosomal recessive nonsyndromic postaxial polydactylyTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001145678.3. 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				6 clinvar	4 clinvar	10
missense	1 clinvar	2 clinvar	53 clinvar	7 clinvar	2 clinvar	65
nonsense	1 clinvar	3 clinvar	2 clinvar			6
start loss						0
frameshift	2 clinvar	1 clinvar	2 clinvar			5
splice donor/acceptor (+/-2bp)		3 clinvar	1 clinvar			4
Total	4	9	58	13	6	90

Highest pathogenic variant AF is 0.00084038597

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 42 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001145678.3	RefSeq	NP_001139150.1	19	MANE Select
ENST00000682413.1	Ensembl	ENSP00000506760.1	19	MANE Select
NM_001385712.1	RefSeq	NP_001372641.1	19	Standard
NM_001385713.1	RefSeq	NP_001372642.1	19	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000329378
Coding exons: 3
Length: 465639
Individuals with no LoFs: 125667
Homozygous LoFs: 0
Heterozygous LoFs: 65
Defined: 125732
p: 0.000259

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.595	136	157	0.866	0.00000731	2165
Missense (PolyPhen)		28	39.379	0.71105		585
Synonymous	1.88	39	57.0	0.684	0.00000273	559
Loss of Function	0.121	13	13.5	0.964	6.35e-7	178

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00028	0.00027	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00035	0.00035	rare
South Asian	0.00027	0.00026	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.24
RVIS percentile EVS: 68.98

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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