WDR37

WD repeat domain 37, the group of WD repeat domain containing

Basic information

Region (hg38): 10:1049537-1160991

Links

ENSG00000047056 ∙ NCBI:22884 ∙ OMIM:618586 ∙ HGNC:31406 ∙ Uniprot:Q9Y2I8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neurooculocardiogenitourinary syndrome (Definitive), mode of inheritance: AD
• neurooculocardiogenitourinary syndrome (Limited), mode of inheritance: AD
• neurooculocardiogenitourinary syndrome (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Neurooculocardiogenitourinary syndrome	AD	Cardiovascular	The condition can involve congenital cardiac anomalies, and awareness may allow early management	Audiologic/Otolaryngologic; Cardiovascular; Craniofacial; Gastrointestinal; Genitourinary; Musculoskeletal; Neurologic; Ophthalmologic	31327508; 31327510

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the WDR37 gene.

• not provided (22 variants)
• Neurooculocardiogenitourinary syndrome (16 variants)
• Inborn genetic diseases (16 variants)
• 6 conditions (4 variants)
• WDR37-related condition (4 variants)
• Congenital cerebellar hypoplasia (1 variants)
• Intellectual disability (1 variants)
• Cerebellar vermis hypoplasia;Ventriculomegaly (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDR37 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				5		5
missense		8	31	5	1	45
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding		1	1			2
Total	0	9	32	10	1

Variants in WDR37

This is a list of pathogenic ClinVar variants found in the WDR37 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-1072170-C-T			Likely benign (Jan 01, 2023)
10-1072181-C-T		Inborn genetic diseases	Uncertain significance (Jun 23, 2021)
10-1072207-C-T		Inborn genetic diseases	Uncertain significance (Apr 07, 2022)
10-1072234-A-G		Inborn genetic diseases	Uncertain significance (Jan 03, 2024)
10-1072260-G-A		WDR37-related disorder	Likely benign (Oct 25, 2022)
10-1072303-G-A		WDR37-related disorder	Likely benign (Oct 25, 2022)
10-1077926-C-T		Inborn genetic diseases	Uncertain significance (May 04, 2023)
10-1077943-C-G		WDR37-related disorder	Uncertain significance (Jan 22, 2024)
10-1077980-A-G		WDR37-related disorder	Benign/Likely benign (Oct 01, 2022)
10-1080025-G-A		Intellectual disability	Uncertain significance (Mar 13, 2020)
10-1080086-A-G		WDR37-related disorder	Uncertain significance (Jan 18, 2023)
10-1080100-A-G		Inborn genetic diseases	Uncertain significance (Aug 17, 2022)
10-1080424-C-T		Neurooculocardiogenitourinary syndrome	Conflicting classifications of pathogenicity (Oct 25, 2022)
10-1080436-C-T		Neurooculocardiogenitourinary syndrome • 6 conditions	Pathogenic/Likely pathogenic (Dec 20, 2022)
10-1080443-A-G		WDR37-related disorder	Benign/Likely benign (May 01, 2023)
10-1080453-A-G		Inborn genetic diseases	Likely pathogenic (Nov 16, 2023)
10-1080454-C-T		Ventriculomegaly;Cerebellar vermis hypoplasia • Neurooculocardiogenitourinary syndrome • 6 conditions • Congenital cerebellar hypoplasia • WDR37-related disorder	Pathogenic/Likely pathogenic (Jan 02, 2024)
10-1080466-C-G		Neurooculocardiogenitourinary syndrome • 6 conditions	Likely pathogenic (May 06, 2019)
10-1080469-C-T		6 conditions • Neurooculocardiogenitourinary syndrome • Inborn genetic diseases	Pathogenic/Likely pathogenic (Jun 07, 2022)
10-1084412-A-T		Neurooculocardiogenitourinary syndrome	Likely pathogenic (Oct 02, 2021)
10-1084425-C-T		WDR37-related disorder	Uncertain significance (Sep 23, 2022)
10-1084435-A-G		WDR37-related disorder	Likely benign (Apr 29, 2020)
10-1084491-T-G			Uncertain significance (Jan 10, 2023)
10-1084499-G-A		Inborn genetic diseases	Uncertain significance (Oct 21, 2021)
10-1084529-G-T		Inborn genetic diseases	Uncertain significance (Mar 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WDR37	protein_coding	protein_coding	ENST00000358220	13	82760

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.566	0.434	125738	0	10	125748	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.31	205	322	0.637	0.0000214	3219
Missense in Polyphen		82	145.76	0.56255		1357
Synonymous	-0.105	138	136	1.01	0.0000101	992
Loss of Function	3.93	6	28.7	0.209	0.00000149	303

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000905	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000707	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.126

Intolerance Scores

• loftool: 0.213
• rvis_EVS: -0.91
• rvis_percentile_EVS: 9.96

Haploinsufficiency Scores

• pHI: 0.165
• hipred: Y
• hipred_score: 0.662
• ghis: 0.563

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.901

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wdr37
• Phenotype: skeleton phenotype; immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); growth/size/body region phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Cellular component: preribosome, large subunit precursor;PeBoW complex