Dr Ajith Kumar

Consultant in Clinical Genetics


Dr Ajith Kumar has been a consultant in clinical genetics at Great Ormond Street Hospital since January 2006. His clinical interests include general genetics, dysmorphology, and cancer genetics. 

Dr Ajith Kumar has been the clinical lead for electronic patient records and quality improvement for the department. He is enthusiastic about the use of information technology in reaching an early diagnosis in rare disorders.


  • General Genetics
  • Dysmorphology, birth defects, developmental delay, intellectual disability
  • Cancer Genetics
  • Neuroendocrine tumours
  • General Genetics
  • Dysmorphology, birth defects, developmental delay, intellectual disability
  • Cancer Genetics
  • Neuroendocrine tumours
  • Application of information technology in reaching early diagnosis in rare disorders
  • MBBS       
  • DCH  
  • MD (Paediatrics)   
  • MRCP (UK)  - Royal College of Physicians (UK)
  • MRCPCH - Royal College of Paediatrics and Child Health
  • MSc Medical Genetics 2001 
  • Neuroendocrine tumours
  • Dysmorphology

News & Publications

Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin.

Ajith Kumar VK, Gold JA, Mallon E, Thomas S, Hodgson SV.

Fam Cancer. 2007 Sep 15

AIP-Related Familial Isolated Pituitary Adenomas.

Korbonits M, Kumar AV.

In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.

2012 Jun 21. PMID: 22720333

Familial pituitary adenomas - who should be tested for AIP mutations?

Korbonits M, Storr H, Kumar AV.

Clin Endocrinol (Oxf). 2012 Sep;77(3):351-6. doi: 10.1111/j.1365-2265.2012.04445.x.

PMID: 22612670

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, Hurst JA, Scott RH.

Eur J Hum Genet. 2014 Aug 13. doi: 10.1038/ejhg.2014.162. [Epub ahead of print]


Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, O'Regan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR, Hurles ME; DDD study.

Nat Genet. 2015 Nov;47(11):1363-9. doi: 10.1038/ng.3410. Epub 2015 Oct 5.

PMID: 26437029

Congenital Cataracts, Facial Dysmorphism, and Neuropathy: Two Affected Siblings in the United Kingdom

Deepika Katangodage, Joseph Kaleyias, Lucinda Carr, Richard Bowman, Ajith V. Kumar

Journal of Pediatric Neurology November 2015

SDHA mutated paragangliomas may be at high risk of metastasis.

Tufton N, Ghelani R, Srirangalingam U, Kumar VKA, Drake W, Iacovazzo D, Skordilis K, Berney DM, Al-Mrayat M, Khoo B, Akker S Endocr Relat Cancer. 2017 May 12. pii: ERC-17-0030. doi: 10.1530/ERC-17-0030. [Epub ahead of print]

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK.

Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13.

PMID: 29436146

Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIP Mutation-Positive Family.

Marques P, Barry S, Ronaldson A, Ogilvie A, Storr HL, Goadsby PJ, Powell M, Dang MN, Chahal HS, Evanson J, Kumar AV, Grieve J, Korbonits M.

Int J Endocrinol. 2018 Apr 4;2018:8581626. doi: 10.1155/2018/8581626. eCollection 2018.

PMID: 29849625

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study

Dhivya Chandrasekaran, Monika Sobocan, Oleg Blyuss, Rowan E. Miller, Olivia Evans, Shanthini M. Crusz, Tina Mills-Baldock, Li Sun, Rory F. L. Hammond, Faiza Gaba, Lucy A. Jenkins, Munaza Ahmed, Ajith Kumar, Arjun Jeyarajah, Alexandra C. Lawrence, Elly Brockbank, Saurabh Phadnis, Mary Quigley, Fatima El Khouly, Rekha Wuntakal, Asma Faruqi, Giorgia Trevisan, Laura Casey, George J. Burghel, Helene Schlecht, Michael Bulman, Philip Smith, Naomi L. Bowers, Rosa Legood, Michelle Lockley, Andrew Wallace, Naveena Singh, D. Gareth Evans, Ranjit Manchanda

Cancers (Basel) 2021 Sep; 13(17): 4344. Published online 2021 Aug 27. doi: 10.3390/cancers13174344

PMCID: PMC8431198


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