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BabyScreen+ newborn screening

Gene: MKKS

Red List (low evidence)
MKKS (McKusick-Kaufman syndrome)
EnsemblGeneIds (GRCh38): ENSG00000125863
EnsemblGeneIds (GRCh37): ENSG00000125863
OMIM: 604896, Gene2Phenotype
MKKS is in 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700

Created: 6 Oct 2022, 12:19 a.m.
Last Modified: 6 Oct 2022, 12:19 a.m.
Panel version: 0.338

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: strong. McKusick-Kaufman syndrome (MKS) is characterized by the combination of postaxial polydactyly (PAP), congenital heart disease (CHD), and hydrometrocolpos (HMC) in females and genital malformations in males (most commonly hypospadias, cryptorchidism, and chordee). HMC in infants usually presents as a large cystic abdominal mass arising out of the pelvis, caused by dilatation of the vagina and uterus as a result of the accumulation of cervical secretions from maternal estrogen stimulation.

Severity: moderate

Age of onset: birth

Treatment: symptomatic only therefore exclude.
Created: 30 Sep 2022, 12:12 a.m. | Last Modified: 30 Sep 2022, 12:12 a.m.
Panel Version: 0.270

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
McKusick-Kaufman syndrome

Created: 30 Sep 2022, 12:12 a.m.
Last Modified: 30 Sep 2022, 12:12 a.m.
Panel version: 0.270

History Filter Activity

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MKKS were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MKKS was added gene: MKKS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome