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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
  3. HOXA4
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: HOXA4

Red List (low evidence)
HOXA4 (homeobox A4)
EnsemblGeneIds (GRCh38): ENSG00000197576
EnsemblGeneIds (GRCh37): ENSG00000197576
OMIM: 142953, Gene2Phenotype
HOXA4 is in 2 panels

2 reviews

Naomi Baker (Victorian Clinical Genetics Services)

Red List (low evidence)

Single publication describing association with microtia-atresia. Monoalleleic de novo missense variant reported in three families of monozygotic twins discordant for congenital microtia-atresia. However, this variant also listed with 27 heterozygous alleles in gnomAD (PMID: 33193662).

Possible association with hyospadias (PMID: 17003840), although this appears to be tenuous (reviewed in PMID: 22371315).

No other reports of mendelian gene-disease association.
Created: 25 Nov 2020, 2:36 a.m. | Last Modified: 25 Nov 2020, 2:36 a.m.
Panel Version: 0.5431

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microtia-Atresia

Publications

Created: 25 Nov 2020, 2:36 a.m.
Last Modified: 25 Nov 2020, 2:36 a.m.
Panel version: Imported from Mendeliome panel version 0.5431

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

no human evidence in non-syndromic CAKUT
Created: 27 Nov 2019, 11:27 p.m. | Last Modified: 27 Nov 2019, 11:27 p.m.
Panel Version: 0.0
Created: 27 Nov 2019, 11:27 p.m.
Last Modified: 27 Nov 2019, 11:27 p.m.
Panel version: 0.0

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
OMIM
142953
Clinvar variants
Variants in HOXA4
Penetrance
None
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoxa4 has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoxa4 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HOXA4 was added gene: HOXA4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HOXA4 was set to Unknown